All 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.

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

Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.

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

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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'

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3182 entries on 32 pages. Showing entries 1 - 100.

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Effect 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
./. - 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
-/- 1 c.-359G>C r.(?) p.(=) - - benign g.23652837C>G g.23641516C>G 159C>G, -159G>C - PALB2_010009 - PubMed: Ding 2011 ClinVar-126576 rs515726057 Germline - - NciI- - - Marc Tischkowitz
-/- 1 c.-359G>C r.(?) p.(=) - - benign g.23652837C>G g.23641516C>G 159C>G, -159G>C - PALB2_010009 - PubMed: Balia 2010 ClinVar-126576 rs515726057 Germline - - NciI- - - Marc Tischkowitz
-?/. - c.-271G>A r.(?) p.(=) - - likely benign g.23652749C>T - - - DCTN5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/-? 1 c.-227T>G r.(=) p.(=) - - VUS g.23652705A>C g.23641384A>C - - PALB2_010206 - PubMed: Blanco 2012 ClinVar-126573 rs515726055 Unknown - - - - - Marc Tischkowitz
-?/. - c.-223C>T r.(?) p.(=) - - likely benign g.23652701G>A - - - DCTN5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-222G>C r.(?) p.(=) - - likely benign g.23652700C>G - - - DCTN5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 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_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 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
?/-? 1 c.-158G>C r.(=) p.(=) - - VUS g.23652636C>G g.23641315C>G - - PALB2_010205 - PubMed: Casadei2011 ClinVar-126571 rs138200248 Unknown - - - - - Marc Tischkowitz
?/-? 1 c.-158G>C r.(=) p.(=) - - VUS g.23652636C>G g.23641315C>G - - PALB2_010205 - PubMed: Wong-Brown2013 ClinVar-126571 rs138200248 Unknown - - - - - Marc Tischkowitz
?/-? 1 c.-158G>C r.(=) p.(=) - - VUS g.23652636C>G g.23641315C>G - - PALB2_010205 - PubMed: Blanco 2012 ClinVar-126571 rs138200248 Unknown - - - - - Marc Tischkowitz
?/-? 1 c.-158G>C r.(=) p.(=) - - VUS g.23652636C>G g.23641315C>G - - PALB2_010205 - PubMed: Hellebrand 2011 ClinVar-126571 rs138200248 Unknown - - - - - Marc Tischkowitz
-?/. - c.-158G>C r.(?) p.(=) - - likely benign g.23652636C>G - - - PALB2_010205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/-? 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 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 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
-/- 1 c.-47G>A r.(=) p.(=) - - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Garcia 2009 ClinVar-126578 rs8053188 Germline - - StuI- - - Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Cao 2009 ClinVar-126578 rs8053188 Germline - - StuI- - - Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Balia2010 ClinVar-126578 rs8053188 Germline - - StuI- - - Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Blanco2012 ClinVar-126578 rs8053188 Germline - - StuI- - - Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Blanco2013 ClinVar-126578 rs8053188 Germline - - StuI- - - Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Catucci2012 ClinVar-126578 rs8053188 Germline - - StuI- - - Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Hellebrand2011 ClinVar-126578 rs8053188 Germline - - StuI- - - Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Prokofyeva2012 ClinVar-126578 rs8053188 Germline - - StuI- - - Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Silvestri2010 ClinVar-126578 rs8053188 Germline - - StuI- - - Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Teo2013 ClinVar-126578 rs8053188 Germline - - StuI- - - Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Wong-Brown2013 ClinVar-126578 rs8053188 Germline - - StuI- - - Marc Tischkowitz
-/- 1 c.-47G>A r.(?) p.(=) - - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Catucci 2014 ClinVar-126578 rs8053188 Germline - - - - - Marc Tischkowitz
-/. - c.-47G>A r.(?) p.(=) - - benign g.23652525C>T g.23641204C>T PALB2(NM_024675.3):c.-47G>A - PALB2_010007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-47G>A r.(?) p.(=) - - benign g.23652525C>T g.23641204C>T PALB2(NM_024675.3):c.-47G>A - PALB2_010007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
-/-? 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
-?/. - 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 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
?/. - c.-24T>C r.(?) p.(=) - - 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_NKI
-?/. - c.-24T>C r.(?) p.(=) - - likely benign 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
?/. 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
?/. - c.-2C>T r.(?) p.(=) - - VUS g.23652480G>A - - - DCTN5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 7i_8i c.? r.? p.? - - pathogenic g.? - del ex8 - CRYM_000000 - PubMed: Moreno-Cabrera 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. 6i_11i c.? r.? p.? - - likely pathogenic g.? - del ex7-11 - CRYM_000000 - PubMed: Moreno-Cabrera 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 6i_7i c.? r.? p.? - - VUS g.? - del ex7 - CRYM_000000 - PubMed: Moreno-Cabrera 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. 6i_11i c.? r.? p.? - - likely pathogenic g.? - del ex7-11 - CRYM_000000 - PubMed: Moreno-Cabrera 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. - c.? r.? p.? - ACMG pathogenic (dominant) g.? - translocation - CRYM_000000 - PubMed: Evans 2022 - - Germline - - - - - Johan den Dunnen
?/. - c.1A>G r.? p.? - - NA g.23652478T>C - chr16_23652478_T_C - PALB2_011238 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. - c.2T>C r.? p.? - - NA g.23652477A>G - chr16_23652477_A_G - PALB2_011237 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+?/. - 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
?/. - c.4G>C r.(?) p.(Asp2His) - - NA g.23652475C>G - chr16_23652475_C_G - PALB2_011236 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. - c.7G>T r.(?) p.(Glu3*) - - NA g.23652472C>A - chr16_23652472_C_A - PALB2_011235 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - - - BRIDGES consortium
-?/. - 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
?/? 1 c.11C>T r.(?) p.(Pro4Leu) - - VUS g.23652468G>A g.23641147G>A - - PALB2_010175 - PubMed: Wong-Brown 2013 ClinVar-126593 rs45619737 Unknown - - - - - Marc Tischkowitz
?/. - c.11C>T r.(?) p.(Pro4Leu) - - NA g.23652468G>A - chr16_23652468_G_A - PALB2_010175 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - - - BRIDGES consortium
?/. - c.11C>T r.(?) p.(Pro4Leu) - - NA g.23652468G>A - chr16_23652468_G_A - PALB2_010175 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 7/53461 controls - - - BRIDGES consortium
-?/. - 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
?/? 1 c.13C>T r.(?) p.(Pro5Ser) - - VUS g.23652466G>A g.23641145G>A - - PALB2_010176 - PubMed: Casadei 2011 ClinVar-126600 rs377085677 Unknown - - - - - Marc Tischkowitz
?/? 1 c.13C>T r.(?) p.(Pro5Ser) - - VUS g.23652466G>A g.23641145G>A - - PALB2_010176 - PubMed: Catucci 2014 ClinVar-126600 rs377085677 Germline - - - - - Marc Tischkowitz
./. - c.13C>T r.(?) p.(Pro5Ser) - - VUS g.23652466G>A g.23641145G>A - - PALB2_010176 - Thibodeau lab (Mayo Clinic) ClinVar-126600 rs377085677 Germline - - - - - Melissa DeRycke
-?/. - c.13C>T - p.(Pro5Ser) - - NA g.23652466G>A g.23641145G>A - - PALB2_010176 expression cloning HR efficiency 62,31%, PARPi resistance 95,74% PubMed: Boonen 2019 - - In vitro (cloned) - - - - - Johan den Dunnen
?/. - c.13C>T r.(?) p.(Pro5Ser) - - NA g.23652466G>A - chr16_23652466_G_A - PALB2_010176 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 8/60466 cases - - - BRIDGES consortium
?/. - c.13C>T r.(?) p.(Pro5Ser) - - NA g.23652466G>A - chr16_23652466_G_A - PALB2_010176 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
-?/. - c.13C>T r.(?) p.(Pro5Ser) - - likely benign g.23652466G>A - - - PALB2_010176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - 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
?/. - c.17G>A r.(?) p.(Gly6Glu) - - VUS g.23652462C>T - - - DCTN5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - 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
+?/. - c.18G>T r.(?) p.(Gly6=) - - likely pathogenic g.23652461C>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_NKI
./. - c.21G>T r.(?) p.(Lys7Asn) - - VUS g.23652458C>A g.23641137C>A - - PALB2_010346 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/. - c.22C>A r.(?) p.(Pro8Thr) - - NA g.23652457G>T - chr16_23652457_G_T - PALB2_011234 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. - c.22C>A r.(?) p.(Pro8Thr) - - NA g.23652457G>T - chr16_23652457_G_T - PALB2_011234 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/-? 1 c.23C>T r.(?) p.(Pro8Leu) - - VUS g.23652456G>A g.23641135G>A - - PALB2_010012 - PubMed: Ding 2011 ClinVar-126652 rs150390726 Germline - - BseRI+ - - Marc Tischkowitz
-?/-? 1 c.23C>T r.(?) p.(Pro8Leu) - - likely benign g.23652456G>A g.23641135G>A - - PALB2_010012 - PubMed: Tung 2014 ClinVar-126652 rs150390726 Unknown - - - - - Marc Tischkowitz
./. - c.23C>T r.(?) p.(Pro8Leu) - - VUS g.23652456G>A g.23641135G>A - - PALB2_010012 - Thibodeau lab (Mayo Clinic) ClinVar-126652 rs150390726 Germline - - - - - Melissa DeRycke
-?/. - c.23C>T - p.(Pro8Leu) - - NA g.23652456G>A g.23641135G>A - - PALB2_010012 expression cloning relative homology directed repair 7.1 PubMed: Wiltshire 2020 - - In vitro (cloned) - - - - - Johan den Dunnen
-?/. - c.23C>T r.(?) p.(Pro8Leu) - - likely benign g.23652456G>A - PALB2(NM_024675.4):c.23C>T (p.P8L) - PALB2_010012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.23C>T r.(?) p.(Pro8Leu) - - likely benign g.23652456G>A - PALB2(NM_024675.4):c.23C>T (p.P8L) - PALB2_010012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 c.25C>T r.(?) p.(Leu9Phe) - - VUS g.23652454G>A g.23641133G>A - - PALB2_010556 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 5/7051 cases breast cancer - - - Yukihide Momozawa
?/. 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 - - - Yukihide Momozawa
?/. - c.25C>T r.(?) p.(Leu9Phe) - - VUS g.23652454G>A g.23641133G>A - - PALB2_010556 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 7/12490 controls - - - Yukihide Momozawa
-/-? 1 c.26T>A r.(?) p.(Leu9His) - - benign g.23652453A>T g.23641132A>T - - PALB2_010013 - PubMed: Prokofyeva 2012 ClinVar-126674 rs515726092 Germline - - MslI+;DdeI- - - Marc Tischkowitz
-?/. - c.26T>A - p.(Leu9His) - - NA g.23652453A>T g.23641132A>T - - PALB2_010013 expression cloning relative homology directed repair 5.8 PubMed: Wiltshire 2020 - - In vitro (cloned) - - - - - Johan den Dunnen
?/. - c.30C>G r.(?) p.(Ser10Arg) - - NA g.23652449G>C - chr16_23652449_G_C - PALB2_011233 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. - c.30C>G r.(?) p.(Ser10Arg) - - VUS g.23652449G>C - PALB2(NM_024675.3):c.30C>G (p.(Ser10Arg), p.S10R) - PALB2_011233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.30C>G r.(?) p.(Ser10Arg) - - VUS g.23652449G>C - PALB2(NM_024675.3):c.30C>G (p.(Ser10Arg), p.S10R) - PALB2_011233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.30C>T r.(?) p.(Ser10=) - - likely benign g.23652449G>A - - - DCTN5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - 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
?/. - c.37G>A r.(?) p.Glu13Lys - ACMG VUS g.23652442C>T g.23641121C>T - - PALB2_010575 ACMG grading: BP5,PM2; Kraus ; 2017. In J Cancer 140: 95 Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. (Descr. as VUS. Suppl. Table 4 (online) Proband tumour type: BC) Shindo ; 2017. J Clin Oncol 35: 3382 Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma. (Pancreatic cancer, susceptibility to?; Classified as VUS. Table A2. Descr. as c.37C>T (reverse)) - - rs373287455 Germline - - - - - Andreas Laner
?/. - c.37G>A r.(?) p.(Glu13Lys) - - NA g.23652442C>T - chr16_23652442_C_T - PALB2_010575 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. - c.40A>G r.(?) p.(Lys14Glu) - - NA g.23652439T>C - chr16_23652439_T_C - PALB2_011232 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/. - c.43G>T r.(?) p.(Glu15*) - - pathogenic g.23652436C>A g.23641115C>A - - PALB2_010635 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs730881884 Germline - 3/2728 individuals - - - Mohammed Faruq
+/. - c.43G>T r.? p.(Glu15Ter) - - pathogenic (dominant) g.23652436C>A g.23641115C>A - - PALB2_010635 - - 182762 - Germline - - - - - Giovana Torrezan
?/. - c.47A>G r.(?) p.(Lys16Arg) - - NA g.23652432T>C - chr16_23652432_T_C - PALB2_011231 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/+ 1 c.48G>A r.32_48del p.(=) - - pathogenic g.23652431C>T g.23641110C>T - - PALB2_010219 - PubMed: Catucci 2014 - rs587776405 Germline - - - - - Marc Tischkowitz
+/+ 1 c.48G>A r.32_48del p.(=) - - pathogenic g.23652431C>T g.23641110C>T - - PALB2_010219 1 families PubMed: Antoniou 2014 - rs587776405 Germline - - - - - Marc Tischkowitz
?/. - c.48+1G>A r.spl? p.? - - NA g.23652430C>T - chr16_23652430_C_T - PALB2_011230 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/+? 1i c.48+1G>C r.spl? p.? - - VUS g.23652430C>G g.23641109C>G - - PALB2_010001 - PubMed: Hellebrand 2011 ClinVar-126750 rs515726118 Germline - - - - - Alfons Meindl
?/+? 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
?/. - c.48+2T>C r.spl? p.? - - NA g.23652429A>G - chr16_23652429_A_G - PALB2_011229 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-?/. - 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
-/-? 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
-?/. - c.48+42C>G r.(=) p.(=) - - likely benign g.23652389G>C - - - DCTN5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.48+703C>G r.(=) p.(=) - - likely benign g.23651728G>C - - - DCTN5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen

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