rs80357962

minus

Geno	Mag	Summary
(-;CC)	6	BRCA1 variant considered pathogenic for breast cancer
(CC;CC)	0	common in clinvar
(D;D)		If from Ancestry DNA, likely to be a miscall
(D;I)		If from Ancestry DNA, likely to be a miscall

Make rs80357962(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092919

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357962
dbSNP (classic)	rs80357962
ClinGen	rs80357962
ebi	rs80357962
HLI	rs80357962
Exac	rs80357962
Gnomad	rs80357962
Varsome	rs80357962
LitVar	rs80357962
Map	rs80357962
PheGenI	rs80357962
Biobank	rs80357962
1000 genomes	rs80357962
hgdp	rs80357962
ensembl	rs80357962
geneview	rs80357962
scholar	rs80357962
google	rs80357962
pharmgkb	rs80357962
gwascentral	rs80357962
openSNP	rs80357962
23andMe	rs80357962
SNPshot	rs80357962
SNPdbe	rs80357962
MSV3d	rs80357962
GWAS Ctlg	rs80357962

Max Magnitude

6

rs80357962, also known as 2730delCC, c.2611_2612delCC and p.Pro871Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357962(-;-)
Alt	rs80357962(-;-)
Reference	Rs80357962(CC;CC)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244936_41244937delGG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047898.2, RCV000111901.3,