rs80357517

minus

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

Make rs80357517(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092277

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357517
dbSNP (classic)	rs80357517
ClinGen	rs80357517
ebi	rs80357517
HLI	rs80357517
Exac	rs80357517
Gnomad	rs80357517
Varsome	rs80357517
LitVar	rs80357517
Map	rs80357517
PheGenI	rs80357517
Biobank	rs80357517
1000 genomes	rs80357517
hgdp	rs80357517
ensembl	rs80357517
geneview	rs80357517
scholar	rs80357517
google	rs80357517
pharmgkb	rs80357517
gwascentral	rs80357517
openSNP	rs80357517
23andMe	rs80357517
SNPshot	rs80357517
SNPdbe	rs80357517
MSV3d	rs80357517
GWAS Ctlg	rs80357517

Max Magnitude

6

rs80357517, also known as 3372insA, c.3253_3254insA and p.Arg1085?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357517(A;A)
Alt	rs80357517(A;A)
Reference	Rs80357517(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41244295dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048109.2, RCV000077125.5, RCV000483228.1,