VCV000096923.8 - ClinVar - NCBI (original) (raw)

On this page

NM_007294.4(BRCA1):c.4038_4041del (p.Arg1347fs)

Germline

Top reviewed classifications are shown here.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_007294.4(BRCA1):c.4038_4041del (p.Arg1347fs)

Variation ID: 96923 Accession: VCV000096923.8

Type and length

Microsatellite, 4 bp

Location

Cytogenetic:17q21.31 17: 43091490-43091493 (GRCh38) [ NCBI UCSC ] 17: 41243507-41243510 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification. Last submission Help The date of the most recent submission for each type of classification for this variant. Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Sep 27, 2014 Aug 11, 2024 Sep 8, 2016

HGVS

... more HGVS ... less HGVS

Protein change

R1347fs, R1300fs, R1051fs, R1179fs, R1219fs, R1259fs, R1279fs, R1321fs, R1344fs, R1235fs, R1276fs, R1277fs, R1299fs, R1320fs, R1258fs, R1305fs, R479fs, R1220fs, R1236fs, R1280fs, R1306fs, R1346fs

Other names

4157del4

Canonical SPDI

NC_000017.11:43091489:TCTTTCTT:TCTT

Functional
consequence Help

The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

-

Global minor allele
frequency (GMAF) Help

The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

-

Allele frequency Help

The frequency of the allele represented by this VCV record.

-

Links

Genes

Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases. Related variants
HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
BRCA1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38GRCh37 13044 14850
LOC126862571 - - - GRCh38 - 1651

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar. Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. Last evaluated Help The most recent date that a submitter evaluated this variant for the condition. Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Breast-ovarian cancer, familial, susceptibility to, 1 Pathogenic (3) reviewed by expert panel Sep 8, 2016 RCV000083044.14
Hereditary cancer-predisposing syndrome Pathogenic (1) criteria provided, single submitter Apr 2, 2024 RCV000129276.11

Submissions - Germline

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

Help

Text-mined citations for rs431825404...

Help

Record last updated Nov 10, 2024

This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.