rs80358116

minus

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

Make rs80358116(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43104262

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80358116
dbSNP (classic)	rs80358116
ClinGen	rs80358116
ebi	rs80358116
HLI	rs80358116
Exac	rs80358116
Gnomad	rs80358116
Varsome	rs80358116
LitVar	rs80358116
Map	rs80358116
PheGenI	rs80358116
Biobank	rs80358116
1000 genomes	rs80358116
hgdp	rs80358116
ensembl	rs80358116
geneview	rs80358116
scholar	rs80358116
google	rs80358116
pharmgkb	rs80358116
gwascentral	rs80358116
openSNP	rs80358116
23andMe	rs80358116
SNPshot	rs80358116
SNPdbe	rs80358116
MSV3d	rs80358116
GWAS Ctlg	rs80358116

Max Magnitude

6

rs80358116 represents a rare variant in the BRCA1 gene. It is also rare in that all three possible alternative alleles are known, and, all three are reported to be pathogenic for breast cancer in ClinVar.

The major allele is rs80358116(G). The three alternatives are c.302-1G>T, c.302-1G>C and c.302-1G>A, the latter of which appears to be tested on at least some 23andMe chips under the pseudonym i5009555.

ClinVar
Risk	rs80358116(A;A) rs80358116(C;C) rs80358116(T;T)
Alt	rs80358116(A;A) rs80358116(C;C) rs80358116(T;T)
Reference	Rs80358116(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41256279C>A; NC_000017.10:g.41256279C>G; NC_000017.10:g.41256279C>T
CLNSRC	Breast Cancer Information Core (BRCA1) Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC	RCV000112247.1, RCV000048044.2, RCV000191156.2, RCV000048043.2, RCV000112246.1,