rs80357715

minus

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

Make rs80357715(A;A)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43093375

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357715
dbSNP (classic)	rs80357715
ClinGen	rs80357715
ebi	rs80357715
HLI	rs80357715
Exac	rs80357715
Gnomad	rs80357715
Varsome	rs80357715
LitVar	rs80357715
Map	rs80357715
PheGenI	rs80357715
Biobank	rs80357715
1000 genomes	rs80357715
hgdp	rs80357715
ensembl	rs80357715
geneview	rs80357715
scholar	rs80357715
google	rs80357715
pharmgkb	rs80357715
gwascentral	rs80357715
openSNP	rs80357715
23andMe	rs80357715
SNPshot	rs80357715
SNPdbe	rs80357715
MSV3d	rs80357715
GWAS Ctlg	rs80357715

Merged from

Rs397508942, Rs606231389

Max Magnitude

6

rs80357715, also known as 2274insA, c.2155_2156insA and p.Lys719?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357715(A;A)
Alt	rs80357715(A;A)
Reference	Rs80357715(-;-)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41245391dupT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047735.3, RCV000111778.3, RCV000210761.1,