rs80357846

minus

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

Make rs80357846(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092526

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357846
dbSNP (classic)	rs80357846
ClinGen	rs80357846
ebi	rs80357846
HLI	rs80357846
Exac	rs80357846
Gnomad	rs80357846
Varsome	rs80357846
LitVar	rs80357846
Map	rs80357846
PheGenI	rs80357846
Biobank	rs80357846
1000 genomes	rs80357846
hgdp	rs80357846
ensembl	rs80357846
geneview	rs80357846
scholar	rs80357846
google	rs80357846
pharmgkb	rs80357846
gwascentral	rs80357846
openSNP	rs80357846
23andMe	rs80357846
SNPshot	rs80357846
SNPdbe	rs80357846
MSV3d	rs80357846
GWAS Ctlg	rs80357846

Status

Merged into rs80357601

Max Magnitude

6

rs80357846, also known as 3124delA, c.3005_3005delA and p.Asn1002Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357846(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244543delT
CLNSRC	Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC	RCV000019238.13, RCV000048039.3, RCV000159912.2, RCV000163096.2,