Unique variants in the PALB2 gene (original) (raw)

Variants associated with Fanconi anemia
A Fanconi anemia mutation database.

Information The variants shown are described using the NM_024675.3 transcript reference sequence.

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Effect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.

Reported: The number of times this variant has been reported in the database.

Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene

DNA change (cDNA): description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.

RNA change: description of variant at RNA level (following HGVS recommendations).

Protein: description of variant at protein level (following HGVS recommendations).

Haplotype: haplotype on which variant was found

Classification method: The method used for the clinical classification of this variant.
All options:

Clinical classification: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:

DNA change (genomic) (hg19): HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup

DNA change (hg38): HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup

Published as: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)

ISCN: description of the variant according to ISCN nomenclature

DB-ID: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro

Variant remarks: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.

Reference: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

ClinVar ID: ID of variant in ClinVar database

dbSNP ID: the dbSNP ID

Origin: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:

Segregation: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:

Frequency: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)

Re-site: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-

VIP: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Methylation: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator Column type Example Matches
Text Arg all entries containing 'Arg'
space Text Arg Ser all entries containing 'Arg' and 'Ser'
| Text Arg|Ser all entries containing 'Arg' or 'Ser'
! Text !fs all entries not containing 'fs'
^ Text ^p.(Arg all entries beginning with 'p.(Arg'
$ Text Ser)$ all entries ending with 'Ser)'
="" Text ="" all entries with this field empty
="" Text ="p.0" all entries exactly matching 'p.0'
!="" Text !="" all entries with this field not empty
!="" Text !="p.0" all entries not exactly matching 'p.0?'
combination Text *|Ter !fs all entries containing '*' or 'Ter' but not containing 'fs'
Date 2020 all entries matching the year 2020
| Date 2020-03|2020-04 all entries matching March or April, 2020
! Date !2020-03 all entries not matching March, 2020
< Date <2020 all entries before the year 2020
<= Date <=2020-06 all entries in or before June, 2020
> Date >2020-06 all entries after June, 2020
>= Date >=2020-06-15 all entries on or after June 15th, 2020
combination Date 2019|2020 <2020-03 all entries in 2019 or 2020, and before March, 2020
Numeric 23 all entries exactly matching 23
| Numeric 23|24 all entries exactly matching 23 or 24
! Numeric !23 all entries not exactly matching 23
< Numeric <23 all entries lower than 23
<= Numeric <=23 all entries lower than, or equal to, 23
> Numeric >23 all entries higher than 23
>= Numeric >=23 all entries higher than, or equal to, 23
combination Numeric >=20 <30 !23 all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example Matches
Asian all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian" all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

1430 entries on 15 pages. Showing entries 1 - 100.

| | Legend | How to query | « First | ‹ Prev | | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | ... | | Next › | Last » | | ------------- | ---------------- | ------- | ------ | | - | - | - | - | - | - | - | - | - | -- | -- | --- | | ------ | ------ |

Effect Reported Exon AscendingDNA change (cDNA) RNA change Protein Haplotype Classification method Clinical classification DNA change (genomic) (hg19) DNA change (hg38) Published as ISCN DB-ID Variant remarks Reference ClinVar ID dbSNP ID Origin Segregation Frequency Re-site VIP Methylation Owner
./. 1 - c.-5679767_*2084573del r.0? p.0? - - pathogenic g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-/- 2 1 c.-359G>C r.(?) p.(=) - - benign g.23652837C>G g.23641516C>G 159C>G, -159G>C - PALB2_010009 - PubMed: Balia 2010, PubMed: Ding 2011 ClinVar-126576 rs515726057 Germline - - NciI- - - Marc Tischkowitz
-?/. 1 - c.-271G>A r.(?) p.(=) - - likely benign g.23652749C>T - - - DCTN5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/-? 1 1 c.-227T>G r.(=) p.(=) - - VUS g.23652705A>C g.23641384A>C - - PALB2_010206 - PubMed: Blanco 2012 ClinVar-126573 rs515726055 Unknown - - - - - Marc Tischkowitz
-?/. 1 - c.-223C>T r.(?) p.(=) - - likely benign g.23652701G>A - - - DCTN5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-222G>C r.(?) p.(=) - - likely benign g.23652700C>G - - - DCTN5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 1_10 c.-200-?_3113+?del r.? p.? - - pathogenic g.(23625413_23632682)_(23652678_?)del - c.(?_-200)_(3113+1_3114-1)del - PALB2_000002 - PubMed: Ameziane 2008; contributed by Fanconi Anemia database ClinVar-126574 - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 _1_10i c.(?_-200)_(3113+1_3114-1)del r.0? p.0? FA - pathogenic g.(23625413_23632682)_(23652678_?)del - c.-200-?_3113+?del - PALB2_000002 - PubMed: Ameziane 2008 ClinVar-126574 - Germline ? - - - - Johan de Winter
-/-? 1 1 c.-194C>G r.(=) p.(=) - - benign g.23652672G>C g.23641351G>C - - PALB2_010011 - PubMed: Zheng 2011 ClinVar-126572 rs515726054 Germline - - AciI+;BslI- - - Marc Tischkowitz
-?/., ?/-? 5 1 c.-158G>C r.(=), r.(?) p.(=) - - likely benign, VUS g.23652636C>G g.23641315C>G - - PALB2_010205 VKGL data sharing initiative Nederland PubMed: Blanco 2012, PubMed: Casadei2011, PubMed: Hellebrand 2011, PubMed: Wong-Brown2013 ClinVar-126571 rs138200248 CLASSIFICATION record, Unknown - - - - - Marc Tischkowitz, VKGL-NL_Nijmegen
?/-? 1 1 c.-145G>C r.(=) p.(=) - - VUS g.23652623C>G g.23641302C>G - - PALB2_010204 - PubMed: Wong-Brown 2013 ClinVar-126570 rs373698818 Unknown - - - - - Marc Tischkowitz
-/-? 1 1 c.-104C>T r.(=) p.(=) - - benign g.23652582G>A g.23641261G>A - - PALB2_010008 - PubMed: Sauty de Chalon 2010 ClinVar-126569 rs180177140 Germline - - MnlI+ - - Marc Tischkowitz
?/-? 1 1 c.-98C>A r.(=) p.(=) - - VUS g.23652576G>T g.23641255G>T 103G>A - PALB2_010174 - PubMed: Ding 2011 ClinVar-126579 rs515726058 Unknown - - BslI-, HpyAV- - - Marc Tischkowitz
-/-, -/. 14 1 c.-47G>A r.(=), r.(?) p.(=) - - benign g.23652525C>T g.23641204C>T PALB2(NM_024675.3):c.-47G>A - PALB2_010007 VKGL data sharing initiative Nederland PubMed: Balia2010, PubMed: Blanco2012, PubMed: Blanco2013, PubMed: Cao 2009, PubMed: Catucci 2014, 7 more items ClinVar-126578 rs8053188 CLASSIFICATION record, Germline - - StuI- - - Marc Tischkowitz, VKGL-NL_Nijmegen, VKGL-NL_NKI
-/-? 1 1 c.-46G>A r.(=) p.(=) - - benign g.23652524C>T g.23641203C>T - - PALB2_010010 - PubMed: Erkko 2007 ClinVar-126577 rs180177141 Germline - - AhdI+;StuI- - - Marc Tischkowitz
-?/. 1 - c.-33G>A r.(?) p.(=) - - likely benign g.23652511C>T g.23641190C>T - - PALB2_010372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/-? 1 1 c.-25C>A r.(=) p.(=) - - VUS g.23652503G>T g.23641182G>T 1(-25) C>A - PALB2_010173 - PubMed: Casadei 2011 ClinVar-126575 rs515726056 Unknown - - - - - Marc Tischkowitz
-?/., ?/. 2 - c.-24T>C r.(?) p.(=) - - likely benign, VUS g.23652502A>G g.23641181A>G PALB2(NM_024675.3):c.-24T>C - DCTN5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_NKI
?/. 1 1 c.-2C>G r.(?) p.(=) - - VUS g.23652480G>C g.23641159G>C - - PALB2_010558 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 1 - c.-2C>T r.(?) p.(=) - - VUS g.23652480G>A - - - DCTN5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/., ?/. 5 6i_11i, 6i_7i, 7i_8i c.? r.? p.? - ACMG likely pathogenic, pathogenic, pathogenic (dominant), VUS g.? - del ex7, del ex7-11, del ex8, translocation - CRYM_000000 - PubMed: Evans 2022, PubMed: Moreno-Cabrera 2021 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - c.1A>G r.? p.? - - NA g.23652478T>C - chr16_23652478_T_C - PALB2_011238 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.2T>C r.? p.? - - NA g.23652477A>G - chr16_23652477_A_G - PALB2_011237 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+?/. 1 - c.3G>A r.(?) p.(Met1?) - - likely pathogenic g.23652476C>T g.23641155C>T - - PALB2_010371 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.4G>C r.(?) p.(Asp2His) - - NA g.23652475C>G - chr16_23652475_C_G - PALB2_011236 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.7G>T r.(?) p.(Glu3*) - - NA g.23652472C>A - chr16_23652472_C_A - PALB2_011235 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - - - BRIDGES consortium
-?/. 1 - c.10C>T - p.(Pro4Ser) - - NA g.23652469G>A g.23641148G>A - - PALB2_010716 expression cloning HR efficiency 97,61%, PARPi resistance 72,70% PubMed: Boonen 2019 - - In vitro (cloned) - - - - - Johan den Dunnen
?/., ?/? 3 1 c.11C>T r.(?) p.(Pro4Leu) - - NA, VUS g.23652468G>A g.23641147G>A chr16_23652468_G_A - PALB2_010175 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Wong-Brown 2013 ClinVar-126593 rs45619737 Germline, Unknown - 3/60466 cases, 7/53461 controls - - - Marc Tischkowitz, BRIDGES consortium
-?/. 1 - c.13C>A r.(?) p.(Pro5Thr) - - likely benign g.23652466G>T - PALB2(NM_024675.3):c.13C>A (p.(Pro5Thr)) - DCTN5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ./., ?/., ?/? 7 1 c.13C>T -, r.(?) p.(Pro5Ser) - - likely benign, NA, VUS g.23652466G>A g.23641145G>A chr16_23652466_G_A - PALB2_010176 expression cloning HR efficiency 62,31%, PARPi resistance 95,74%, 2 more items Thibodeau lab (Mayo Clinic), PubMed: Boonen 2019, PubMed: Casadei 2011, PubMed: Catucci 2014, 1 more item ClinVar-126600 rs377085677 CLASSIFICATION record, Germline, In vitro (cloned), Unknown - 2/53461 controls, 8/60466 cases - - - Johan den Dunnen, Marc Tischkowitz, Melissa DeRycke, VKGL-NL_Nijmegen, BRIDGES consortium
-?/. 1 - c.15C>G r.(?) p.(Pro5=) - - likely benign g.23652464G>C g.23641143G>C - - DCTN5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.17G>A r.(?) p.(Gly6Glu) - - VUS g.23652462C>T - - - DCTN5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 2 - c.18G>T r.(?) p.(Gly6=) - - likely pathogenic g.23652461C>A g.23641140C>A PALB2(NM_024675.3):c.18G>T (p.Gly6=), PALB2(NM_024675.4):c.18G>T (p.G6=) - DCTN5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_NKI
./. 1 - c.21G>T r.(?) p.(Lys7Asn) - - VUS g.23652458C>A g.23641137C>A - - PALB2_010346 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/. 2 - c.22C>A r.(?) p.(Pro8Thr) - - NA g.23652457G>T - chr16_23652457_G_T - PALB2_011234 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
-?/-?, -?/., ./., ?/-? 6 1 c.23C>T -, r.(?) p.(Pro8Leu) - - likely benign, NA, VUS g.23652456G>A g.23641135G>A PALB2(NM_024675.4):c.23C>T (p.P8L) - PALB2_010012 expression cloning relative homology directed repair 7.1, VKGL data sharing initiative Nederland Thibodeau lab (Mayo Clinic), PubMed: Ding 2011, PubMed: Tung 2014, PubMed: Wiltshire 2020 ClinVar-126652 rs150390726 CLASSIFICATION record, Germline, In vitro (cloned), Unknown - - BseRI+ - - Johan den Dunnen, Marc Tischkowitz, Melissa DeRycke, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 3 1 c.25C>T r.(?) p.(Leu9Phe) - - VUS g.23652454G>A g.23641133G>A - - PALB2_010556 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 12/11241 controls, 5/7051 cases breast cancer, 7/12490 controls - - - Yukihide Momozawa
-/-?, -?/. 2 1 c.26T>A -, r.(?) p.(Leu9His) - - benign, NA g.23652453A>T g.23641132A>T - - PALB2_010013 expression cloning relative homology directed repair 5.8 PubMed: Prokofyeva 2012, PubMed: Wiltshire 2020 ClinVar-126674 rs515726092 Germline, In vitro (cloned) - - MslI+;DdeI- - - Johan den Dunnen, Marc Tischkowitz
?/. 3 - c.30C>G r.(?) p.(Ser10Arg) - - NA, VUS g.23652449G>C - chr16_23652449_G_C, PALB2(NM_024675.3):c.30C>G (p.(Ser10Arg), p.S10R) - PALB2_011233 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/53461 controls - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, BRIDGES consortium
-?/. 1 - c.30C>T r.(?) p.(Ser10=) - - likely benign g.23652449G>A - - - DCTN5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.32G>A r.(?) p.(Cys11Tyr) - - likely benign g.23652447C>T - PALB2(NM_024675.4):c.32G>A (p.C11Y) - DCTN5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 2 - c.37G>A r.(?) p.(Glu13Lys), p.Glu13Lys - ACMG NA, VUS g.23652442C>T g.23641121C>T chr16_23652442_C_T - PALB2_010575 2 more items PubMed: Dorling 2021, Journal: Dorling 2021 - rs373287455 Germline - 1/60466 cases - - - Andreas Laner, BRIDGES consortium
?/. 1 - c.40A>G r.(?) p.(Lys14Glu) - - NA g.23652439T>C - chr16_23652439_T_C - PALB2_011232 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/. 2 - c.43G>T r.(?), r.? p.(Glu15*), p.(Glu15Ter) - - pathogenic, pathogenic (dominant) g.23652436C>A g.23641115C>A - - PALB2_010635 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 182762 rs730881884 Germline - 3/2728 individuals - - - Giovana Torrezan, Mohammed Faruq
?/. 1 - c.47A>G r.(?) p.(Lys16Arg) - - NA g.23652432T>C - chr16_23652432_T_C - PALB2_011231 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/+ 2 1 c.48G>A r.32_48del p.(=) - - pathogenic g.23652431C>T g.23641110C>T - - PALB2_010219 1 families PubMed: Antoniou 2014, PubMed: Catucci 2014 - rs587776405 Germline - - - - - Marc Tischkowitz
?/. 1 - c.48+1G>A r.spl? p.? - - NA g.23652430C>T - chr16_23652430_C_T - PALB2_011230 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/+? 2 1i c.48+1G>C r.spl? p.? - - VUS g.23652430C>G g.23641109C>G - - PALB2_010001 - PubMed: Hellebrand 2011 ClinVar-126750 rs515726118 Germline - - TseI+;BanI- - - Marc Tischkowitz, Alfons Meindl
?/. 1 - c.48+2T>C r.spl? p.? - - NA g.23652429A>G - chr16_23652429_A_G - PALB2_011229 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-?/. 1 - c.48+20G>A r.(=) p.(=) - - likely benign g.23652411C>T - PALB2(NM_024675.3):c.48+20G>A (p.(=)) - DCTN5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/-? 1 1i c.48+27G>T r.(=) p.(=) - - benign g.23652404C>A g.23641083C>A - - PALB2_010014 - PubMed: Tischkowitz 2012 ClinVar-126751 rs515726119 Germline - - DdeI+;HgaI- - - Marc Tischkowitz
-?/. 1 - c.48+42C>G r.(=) p.(=) - - likely benign g.23652389G>C - - - DCTN5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.48+703C>G r.(=) p.(=) - - likely benign g.23651728G>C - - - DCTN5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/-? 1 1i c.49-173G>T r.(=) p.(=) - - benign g.23649623C>A g.23638302C>A IVS1-173G>T - PALB2_010015 - PubMed: Sauty de Chalon 2010 ClinVar-126752 rs515726120 Germline - - HpyCH4V- - - Marc Tischkowitz
-?/. 1 - c.49-79C>T r.(=) p.(=) - - likely benign g.23649529G>A - - - DCTN5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/-? 2 1i c.49-54C>T r.(=) p.(=) - - likely benign, VUS g.23649504G>A g.23638183G>A - - PALB2_010209 VKGL data sharing initiative Nederland PubMed: Wong-Brown 2013 ClinVar-126753 rs515726121 CLASSIFICATION record, Unknown - - - - - Marc Tischkowitz, VKGL-NL_Nijmegen
-?/. 1 - c.49-30C>G r.(=) p.(=) - - likely benign g.23649480G>C - - - DCTN5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.49-12T>A r.(=) p.(=) - - likely benign g.23649462A>T - - - DCTN5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+?, ?/. 4 1i c.49-2A>T r.(?), r.spl? p.(?), p.? - - likely pathogenic, NA, VUS g.23649452T>A g.23638131T>A chr16_23649452_T_A, PALB2(NM_024675.4):c.49-2A>T - PALB2_010325 VKGL data sharing initiative Nederland, 1 more item PubMed: Couch 2015, PubMed: Dorling 2021, Journal: Dorling 2021 - rs786203245 CLASSIFICATION record, Germline, Unknown - 1/60466 cases - - - Marc Tischkowitz, VKGL-NL_Groningen, MobiDetails, BRIDGES consortium
+/. 1 - c.49-1del r.spl p.? - - pathogenic g.23649451del g.23638130del - - PALB2_010557 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
+/+ 3 1i_6i c.(48+1_49-1)_(2586+1_2587-1)del r.spl? p.? FA - pathogenic g.(23637719_23640524)_(23649451_23652430)del - c.49-?_2586+?del, g.23649450_23640525del - PALB2_000001 inherited from paternal allele (MLPA of EUFA1341 and father suggest deletion 1 copy exons 2-6) PubMed: Xia 2007, PubMed: Xia 2007; contributed by Fanconi Anemia database - - Germline, Unknown ? - AccI- - - Global Variome, with Curator vacancy, Arleen D. Auerbach, Marc Tischkowitz
?/. 1 - c.49T>G r.(?) p.(Leu17Val) - - VUS g.23649450A>C - PALB2(NM_024675.3):c.49T>G (p.L17V) - DCTN5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.50del r.(?) p.(Leu17*) - - pathogenic g.23649450del - PALB2(NM_024675.4):c.50delT (p.L17*) - DCTN5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.50T>G r.(?) p.(Leu17*) - - NA g.23649449A>C - chr16_23649449_A_C - PALB2_011228 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-/., -?/-?, -?/., ./., ?/. 13 2 c.53A>G -, r.(?) p.(Lys18Arg) - - benign, likely benign, NA g.23649446T>C g.23638125T>C chr16_23649446_T_C, 1 more item - PALB2_010016 VKGL data sharing initiative Nederland, 2 more items Thibodeau lab (Mayo Clinic), PubMed: Bogdanova 2011, PubMed: Boonen 2019, PubMed: Ding2011, 3 more items ClinVar-126758 rs138789658 CLASSIFICATION record, Germline, In vitro (cloned) - 10/60466 cases, 13/53461 controls - - - Johan den Dunnen, Marc Tischkowitz, VKGL-NL_Leiden, Melissa DeRycke, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_NKI, BRIDGES consortium
?/. 1 - c.62T>C r.(?) p.Leu21Ser - ACMG VUS g.23649437A>G g.23638116A>G - - PALB2_010574 1 more item - - - Germline - - - - - Andreas Laner
?/. 1 1 c.65C>T r.(?) p.(Ala22Val) - - VUS g.23649434G>A g.23638113G>A - - PALB2_010555 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
+?/., ?/. 3 - c.71T>C -, r.(?) p.(Leu24Ser) - - NA g.23649428A>G g.23638107A>G chr16_23649428_A_G - PALB2_010715 expression cloning HR efficiency 20,67%, PARPi resistance 55,40%, 2 more items PubMed: Boonen 2019, PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Wiltshire 2020 - - Germline, In vitro (cloned) - 1/53461 controls - - - Johan den Dunnen, BRIDGES consortium
?/. 1 - c.71T>G r.(?) p.(Leu24Trp) - - NA g.23649428A>C - chr16_23649428_A_C - PALB2_011227 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/+, +/., ?/. 6 2 c.72del r.(?) p.(Arg26Glyfs*7) - ACMG NA, pathogenic g.23649427del g.23638106del 72delG, 73delG, chr16_23649426_TC_T, PALB2(NM_024675.4):c.72delG (p.R26Gfs*7) - PALB2_010017 2 families, VKGL data sharing initiative Nederland, 2 more items Antoniou et al. 2014. NEJM 6: 497; Peterlongo et al. 2011. Breast Cancer Res Treat 3: 825, 4 more items ClinVar-126766 rs180177142 CLASSIFICATION record, Germline - 3/60466 cases Hpy188III- - - Andreas Laner, Marc Tischkowitz, VKGL-NL_VUmc, BRIDGES consortium
?/. 2 - c.72G>C r.(?) p.(Leu24Phe) - - NA g.23649427C>G - chr16_23649427_C_G - PALB2_011226 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 1 c.73A>C r.(?) p.(Lys25Gln) - - VUS g.23649426T>G g.23638105T>G - - PALB2_010554 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
+/+, ?/. 2 2 c.73A>T r.(?) p.(Lys25*) - - NA, pathogenic g.23649426T>A g.23638105T>A chr16_23649426_T_A - PALB2_010245 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Janatova 2013 - - Germline - 1/60466 cases - - - Marc Tischkowitz, BRIDGES consortium
?/. 1 - c.76A>T r.(?) p.(Arg26Trp) - - VUS g.23649423T>A - - - DCTN5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.76del r.(?) p.(Arg26Glyfs*7) - - NA g.23649426del - chr16_23649422_CT_C - PALB2_011225 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/., ?/. 3 - c.78_79del r.(?) p.(Glu27Ilefs*15), p.(Glu27IlefsTer15) - - NA, pathogenic g.23649421_23649422del g.23638100_23638101del chr16_23649419_TCC_T, 1 more item - PALB2_010366 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/60466 cases - - - VKGL-NL_Groningen, VKGL-NL_NKI, BRIDGES consortium
+?/., -?/., ?/? 3 2 c.83A>G -, r.(?) p.(Tyr28Cys) - - NA, VUS g.23649416T>C g.23638095T>C - - PALB2_010018 expression cloning HR efficiency 32,92%, PARPi resistance 21,70%, 1 more item PubMed: Boonen 2019, PubMed: Ding 2011, PubMed: Wiltshire 2020 ClinVar-126774 rs515726129 Germline, In vitro (cloned) - - TseI+ - - Johan den Dunnen, Marc Tischkowitz
-?/. 1 - c.84C>T r.(?) p.(=) - - likely benign g.23649415G>A - - - DCTN5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 6 - c.85A>G r.(?) p.(Ser29Gly) - - likely benign, NA, VUS g.23649414T>C g.23638093T>C chr16_23649414_T_C, PALB2(NM_024675.3):c.85A>G (p.S29G), PALB2(NM_024675.4):c.85A>G (p.S29G) - DCTN5_000002 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 2/60466 cases, 4/53461 controls - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, BRIDGES consortium
?/. 3 1 c.86G>C r.(?) p.(Ser29Thr) - - VUS g.23649413C>G g.23638092C>G - - PALB2_010553 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls, 1/7051 cases breast cancer, 2/11241 controls - - - Yukihide Momozawa
?/. 1 - c.86_108+12dup r.spl? p.? - - VUS g.23649379_23649413dup - PALB2(NM_024675.4):c.108+13_108+14ins35 - DCTN5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.87C>G r.(?) p.(Ser29Arg) - - NA g.23649412G>C - chr16_23649412_G_C - PALB2_011224 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-?/., ?/? 2 2 c.90G>T -, r.(?) p.(Lys30Asn) - - NA, VUS g.23649409C>A g.23638088C>A - - PALB2_010177 expression cloning relative homology directed repair 4.6 PubMed: Teo 2013, PubMed: Wiltshire 2020 ClinVar-126779 rs515726130 In vitro (cloned), Unknown - - - - - Johan den Dunnen, Marc Tischkowitz
-?/., ?/. 2 - c.92C>T -, r.(?) p.(Thr31Ile) - - NA g.23649407G>A g.23638086G>A chr16_23649407_G_A - PALB2_010714 expression cloning HR efficiency 97,16%, PARPi resistance 102,22%, 1 more item PubMed: Boonen 2019, PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline, In vitro (cloned) - 2/60466 cases - - - Johan den Dunnen, BRIDGES consortium
+?/+? 1 2 c.93dup r.(?) p.(Leu32Thrfs*11) - - likely pathogenic g.23649406dup g.23638085dup c.93dupA - PALB2_010324 - PubMed: Couch 2015 - rs864622498 Unknown - - - - - Marc Tischkowitz
?/. 1 - c.93_94dup r.(?) p.(Leu32Hisfs*2) - - NA g.23649407_23649408dup - chr16_23649404_A_AGT - PALB2_011223 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-?/., ./., ?/., ?/? 7 2 c.94C>G r.(?) p.(Leu32Val) - - likely benign, NA, VUS g.23649405G>C g.23638084G>C chr16_23649405_G_C - PALB2_010178 VKGL data sharing initiative Nederland, 1 more item Thibodeau lab (Mayo Clinic), PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Teo 2013, 1 more item ClinVar-126781 rs151316635 CLASSIFICATION record, Germline, Unknown - 11/60466 cases, 5/53461 controls - - - Marc Tischkowitz, Melissa DeRycke, VKGL-NL_Nijmegen, MobiDetails, BRIDGES consortium
-?/., ?/. 5 1 c.100C>T -, r.(?) p.(Arg34Cys) - - NA, VUS g.23649399G>A g.23638078G>A chr16_23649399_G_A - PALB2_010551 expression cloning relative homology directed repair 4.9, not in 11241 controls, 2 more items PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Momozawa 2018, Journal: Momozawa 2018, 1 more item - rs373483056 CLASSIFICATION record, Germline, In vitro (cloned) - 1/7051 cases breast cancer, 2/53461 controls, 5/60466 cases - - - Johan den Dunnen, Yukihide Momozawa, VKGL-NL_Nijmegen, BRIDGES consortium
-?/., ?/. 7 - c.101G>A -, r.(?) p.(Arg34His) - - likely benign, NA, VUS g.23649398C>T g.23638077C>T chr16_23649398_C_T, 1 more item - DCTN5_000009 expression cloning relative homology directed repair 5.0, VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Wiltshire 2020 - - CLASSIFICATION record, Germline, In vitro (cloned) - 1/53461 controls, 4/60466 cases - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_NKI, BRIDGES consortium
?/. 1 - c.101G>T r.(?) p.(Arg34Leu) - - VUS g.23649398C>A g.23638077C>A - - PALB2_010552 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs144944814 Germline - 1/12490 controls - - - Yukihide Momozawa
+?/. 2 - c.104T>C - p.(Leu35Pro) - - NA g.23649395A>G g.23638074A>G - - PALB2_010713 2 more items PubMed: Boonen 2019, PubMed: Wiltshire 2020 - - In vitro (cloned) - - - - - Johan den Dunnen
?/. 1 - c.106C>T r.(?) p.(Gln36*) - - NA g.23649393G>A - chr16_23649393_G_A - PALB2_011222 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.108+1G>A r.spl? p.? - - NA g.23649390C>T - chr16_23649390_C_T - PALB2_011221 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+?/. 1 - c.108+1G>T r.spl? p.? - - likely pathogenic g.23649390C>A - - - DCTN5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.108+4A>G r.spl? p.? - - VUS g.23649387T>C - PALB2(NM_024675.4):c.108+4A>G - DCTN5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.108+12G>A r.(=) p.(=) - - likely benign g.23649379C>T - - - DCTN5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/-? 1 2i c.108+59C>G r.(=) p.(=) - - benign g.23649332G>C g.23638011G>C c.109-59C>G - PALB2_010019 - PubMed: Tischkowitz 2012 ClinVar-126588 - Germline - - HincII+ - - Marc Tischkowitz
-?/. 1 - c.109-45A>T r.(=) p.(=) - - likely benign g.23649318T>A - PALB2(NM_024675.3):c.109-45A>T - DCTN5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-?/. 1 - c.109-18T>G r.(=) p.(=) - - likely benign g.23649291A>C - - - DCTN5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.109-12T>A r.(?) p.(=) - ACMG likely pathogenic g.23649285A>T g.23637964A>T - - PALB2_010573 1 more item - - rs774949203 Germline - - - - - Andreas Laner

| | Legend | How to query | « First | ‹ Prev | | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | ... | | Next › | Last » | | ------------- | ---------------- | ------- | ------ | | - | - | - | - | - | - | - | - | - | -- | -- | --- | | ------ | ------ |

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.