rs80357919

minus

Geno	Mag	Summary
(-;CTCA)	6	BRCA1 variant considered pathogenic for breast cancer
(CTCA;CTCA)	0	common in clinvar

Make rs80357919(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094685

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357919
dbSNP (classic)	rs80357919
ClinGen	rs80357919
ebi	rs80357919
HLI	rs80357919
Exac	rs80357919
Gnomad	rs80357919
Varsome	rs80357919
LitVar	rs80357919
Map	rs80357919
PheGenI	rs80357919
Biobank	rs80357919
1000 genomes	rs80357919
hgdp	rs80357919
ensembl	rs80357919
geneview	rs80357919
scholar	rs80357919
google	rs80357919
pharmgkb	rs80357919
gwascentral	rs80357919
openSNP	rs80357919
23andMe	rs80357919
SNPshot	rs80357919
SNPdbe	rs80357919
MSV3d	rs80357919
GWAS Ctlg	rs80357919

Max Magnitude

6

rs80357919, also known as 962del4, c.843_846delCTCA and p.Ser281_Ser282?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i4000457

ClinVar
Risk	rs80357919(-;-)
Alt	rs80357919(-;-)
Reference	Rs80357919(CTCA;CTCA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified not provided
Reversed	1
HGVS	NC_000017.10:g.41246702_41246705delTGAG
CLNSRC	Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC	RCV000019253.8, RCV000049168.5, RCV000131872.2, RCV000238935.1, RCV000412670.1,