rs4987049

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 rs4987049(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32398437

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs4987049
dbSNP (classic)	rs4987049
ClinGen	rs4987049
ebi	rs4987049
HLI	rs4987049
Exac	rs4987049
Gnomad	rs4987049
Varsome	rs4987049
LitVar	rs4987049
Map	rs4987049
PheGenI	rs4987049
Biobank	rs4987049
1000 genomes	rs4987049
hgdp	rs4987049
ensembl	rs4987049
geneview	rs4987049
scholar	rs4987049
google	rs4987049
pharmgkb	rs4987049
gwascentral	rs4987049
openSNP	rs4987049
23andMe	rs4987049
SNPshot	rs4987049
SNPdbe	rs4987049
MSV3d	rs4987049
GWAS Ctlg	rs4987049

Max Magnitude

6

rs4987049, also known as c.9924C>G or p.Tyr3308Ter, is a rare mutation in the BRCA2 gene.

The minor/rare allele is considered pathogenic for breast cancer in ClinVar.

?	(C;C) (C;G) (G;G)	28

ClinVar
Risk	rs4987049(A;A) rs4987049(G;G) rs4987049(T;T)
Alt	rs4987049(A;A) rs4987049(G;G) rs4987049(T;T)
Reference	Rs4987049(C;C)
Significance	Other
Disease	Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 not provided Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified
Reversed	0
HGVS	NC_000013.10:g.32972574C>A; NC_000013.10:g.32972574C>G; NC_000013.10:g.32972574C>T
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000257043.2, RCV000479392.1, RCV000045914.6, RCV000077479.8, RCV000131045.4, RCV000221171.2, RCV000045915.4, RCV000112823.1, RCV000163121.1, RCV000195310.4,