rs80356997

Orientation

minus

Stabilized

minus

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

Make rs80356997(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43076583

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80356997
dbSNP (classic)	rs80356997
ClinGen	rs80356997
ebi	rs80356997
HLI	rs80356997
Exac	rs80356997
Gnomad	rs80356997
Varsome	rs80356997
LitVar	rs80356997
Map	rs80356997
PheGenI	rs80356997
Biobank	rs80356997
1000 genomes	rs80356997
hgdp	rs80356997
ensembl	rs80356997
geneview	rs80356997
scholar	rs80356997
google	rs80356997
pharmgkb	rs80356997
gwascentral	rs80356997
openSNP	rs80356997
23andMe	rs80356997
SNPshot	rs80356997
SNPdbe	rs80356997
MSV3d	rs80356997
GWAS Ctlg	rs80356997

Max Magnitude

6

rs80356997, also known as Y1463X, c.4389C>A and p.Tyr1463Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80356997(A;A) rs80356997(G;G) rs80356997(T;T)
Alt	rs80356997(A;A) rs80356997(G;G) rs80356997(T;T)
Reference	Rs80356997(C;C)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41228600G>C; NC_000017.10:g.41228600G>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000132271.2, RCV000241288.1, RCV000048544.4, RCV000112330.3, RCV000162877.2, RCV000236736.1,