rs80356923

Orientation

minus

Stabilized

minus

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

Make rs80356923(A;A)

Make rs80356923(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091891

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356923
dbSNP (classic)	rs80356923
ClinGen	rs80356923
ebi	rs80356923
HLI	rs80356923
Exac	rs80356923
Gnomad	rs80356923
Varsome	rs80356923
LitVar	rs80356923
Map	rs80356923
PheGenI	rs80356923
Biobank	rs80356923
1000 genomes	rs80356923
hgdp	rs80356923
ensembl	rs80356923
geneview	rs80356923
scholar	rs80356923
google	rs80356923
pharmgkb	rs80356923
gwascentral	rs80356923
openSNP	rs80356923
23andMe	rs80356923
SNPshot	rs80356923
SNPdbe	rs80356923
MSV3d	rs80356923
GWAS Ctlg	rs80356923

Max Magnitude

6

rs80356923, also known as E1214X, c.3640G>T and p.Glu1214Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356923(A;A) rs80356923(T;T)
Alt	rs80356923(A;A) rs80356923(T;T)
Reference	Rs80356923(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Neoplasm of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Neoplasm of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified
Reversed	1
HGVS	NC_000017.10:g.41243908C>A; NC_000017.10:g.41243908C>T
CLNSRC	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein)
CLNACC	RCV000048267.2, RCV000112143.5, RCV000413182.1, RCV000048266.5, RCV000112142.2, RCV000162552.1, RCV000433388.1,