rs80357963

minus

Geno	Mag	Summary
(-;TGTC)	6	BRCA1 variant considered pathogenic for breast cancer
(GTCT;GTCT)	0	common in clinvar
(TGTC;TGTC)	0	common/normal

Make rs80357963(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43091773

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357963
dbSNP (classic)	rs80357963
ClinGen	rs80357963
ebi	rs80357963
HLI	rs80357963
Exac	rs80357963
Gnomad	rs80357963
Varsome	rs80357963
LitVar	rs80357963
Map	rs80357963
PheGenI	rs80357963
Biobank	rs80357963
1000 genomes	rs80357963
hgdp	rs80357963
ensembl	rs80357963
geneview	rs80357963
scholar	rs80357963
google	rs80357963
pharmgkb	rs80357963
gwascentral	rs80357963
openSNP	rs80357963
23andMe	rs80357963
SNPshot	rs80357963
SNPdbe	rs80357963
MSV3d	rs80357963
GWAS Ctlg	rs80357963

Status

Merged into rs80357868

Max Magnitude

6

rs80357963, also known as 3874del4, c.3755_3758delTGTC and p.Leu1252_Ser1253?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357963(GTCT;GTCT)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41243789_41243792delAGAC
CLNSRC	Breast Cancer Information Core (BRCA1) Inc. OMIM Allelic Variant
CLNACC	RCV000019242.14, RCV000048314.5, RCV000131810.4, RCV000167859.4, RCV000239051.1,