rs80358427

Orientation

plus

Stabilized

plus

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

Make rs80358427(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32332877

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358427
dbSNP (classic)	rs80358427
ClinGen	rs80358427
ebi	rs80358427
HLI	rs80358427
Exac	rs80358427
Gnomad	rs80358427
Varsome	rs80358427
LitVar	rs80358427
Map	rs80358427
PheGenI	rs80358427
Biobank	rs80358427
1000 genomes	rs80358427
hgdp	rs80358427
ensembl	rs80358427
geneview	rs80358427
scholar	rs80358427
google	rs80358427
pharmgkb	rs80358427
gwascentral	rs80358427
openSNP	rs80358427
23andMe	rs80358427
SNPshot	rs80358427
SNPdbe	rs80358427
MSV3d	rs80358427
GWAS Ctlg	rs80358427

Max Magnitude

6

rs80358427, also known as K467X, c.1399A>T and p.Lys467Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358427(T;T)
Alt	rs80358427(T;T)
Reference	Rs80358427(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Neoplasm of breast
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Neoplasm of breast
Reversed	0
HGVS	NC_000013.10:g.32907014A>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000043799.2, RCV000077256.6, RCV000131059.3, RCV000221316.1, RCV000240776.1,