rs80357692

minus

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

Make rs80357692(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092201

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357692
dbSNP (classic)	rs80357692
ClinGen	rs80357692
ebi	rs80357692
HLI	rs80357692
Exac	rs80357692
Gnomad	rs80357692
Varsome	rs80357692
LitVar	rs80357692
Map	rs80357692
PheGenI	rs80357692
Biobank	rs80357692
1000 genomes	rs80357692
hgdp	rs80357692
ensembl	rs80357692
geneview	rs80357692
scholar	rs80357692
google	rs80357692
pharmgkb	rs80357692
gwascentral	rs80357692
openSNP	rs80357692
23andMe	rs80357692
SNPshot	rs80357692
SNPdbe	rs80357692
MSV3d	rs80357692
GWAS Ctlg	rs80357692

Max Magnitude

6

rs80357692, also known as 3448insA, c.3329_3330insA and p.Lys1110?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357692(A;A)
Alt	rs80357692(A;A)
Reference	Rs80357692(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244219dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048148.2, RCV000112067.3, RCV000166572.2,