rs80358721

Orientation

plus

Stabilized

plus

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

Make rs80358721(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339320

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358721
dbSNP (classic)	rs80358721
ClinGen	rs80358721
ebi	rs80358721
HLI	rs80358721
Exac	rs80358721
Gnomad	rs80358721
Varsome	rs80358721
LitVar	rs80358721
Map	rs80358721
PheGenI	rs80358721
Biobank	rs80358721
1000 genomes	rs80358721
hgdp	rs80358721
ensembl	rs80358721
geneview	rs80358721
scholar	rs80358721
google	rs80358721
pharmgkb	rs80358721
gwascentral	rs80358721
openSNP	rs80358721
23andMe	rs80358721
SNPshot	rs80358721
SNPdbe	rs80358721
MSV3d	rs80358721
GWAS Ctlg	rs80358721

Max Magnitude

6

rs80358721, also known as Y1655X, c.4965C>G and p.Tyr1655Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358721(A;A) rs80358721(G;G)
Alt	rs80358721(A;A) rs80358721(G;G)
Reference	Rs80358721(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Fanconi anemia Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Fanconi anemia, complementation group D1 Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32913457C>A; NC_000013.10:g.32913457C>G
CLNSRC	L.L.C.
CLNACC	RCV000044532.2, RCV000083111.5, RCV000031517.8, RCV000044533.6, RCV000128925.4, RCV000194794.1, RCV000195354.4,