rs80358464

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;T)	6	BRCA2 variant considered pathogenic for breast cancer
(G;T)	6	BRCA2 variant considered pathogenic for breast cancer
(T;T)	0	common in clinvar

Make rs80358464(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333278

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358464
dbSNP (classic)	rs80358464
ClinGen	rs80358464
ebi	rs80358464
HLI	rs80358464
Exac	rs80358464
Gnomad	rs80358464
Varsome	rs80358464
LitVar	rs80358464
Map	rs80358464
PheGenI	rs80358464
Biobank	rs80358464
1000 genomes	rs80358464
hgdp	rs80358464
ensembl	rs80358464
geneview	rs80358464
scholar	rs80358464
google	rs80358464
pharmgkb	rs80358464
gwascentral	rs80358464
openSNP	rs80358464
23andMe	rs80358464
SNPshot	rs80358464
SNPdbe	rs80358464
MSV3d	rs80358464
GWAS Ctlg	rs80358464

Max Magnitude

6

rs80358464, also known as Y600X, c.1800T>G and p.Tyr600Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358464(A;A) rs80358464(C;C) rs80358464(G;G)
Alt	rs80358464(A;A) rs80358464(C;C) rs80358464(G;G)
Reference	Rs80358464(T;T)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32907415T>A; NC_000013.10:g.32907415T>C; NC_000013.10:g.32907415T>G
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000031340.6, RCV000131060.3, RCV000216426.2, RCV000233828.1, RCV000043892.2, RCV000077266.6, RCV000162912.1, RCV000418517.1,