rs80359022

plus

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

Make rs80359022(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32362675

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359022
dbSNP (classic)	rs80359022
ClinGen	rs80359022
ebi	rs80359022
HLI	rs80359022
Exac	rs80359022
Gnomad	rs80359022
Varsome	rs80359022
LitVar	rs80359022
Map	rs80359022
PheGenI	rs80359022
Biobank	rs80359022
1000 genomes	rs80359022
hgdp	rs80359022
ensembl	rs80359022
geneview	rs80359022
scholar	rs80359022
google	rs80359022
pharmgkb	rs80359022
gwascentral	rs80359022
openSNP	rs80359022
23andMe	rs80359022
SNPshot	rs80359022
SNPdbe	rs80359022
MSV3d	rs80359022
GWAS Ctlg	rs80359022

Max Magnitude

6

rs80359022, also known as c.7958T>C, p.Leu2653Pro or L2653P, represents a rare mutation in the BRCA2 gene. The minor/rare allele for this SNP is considered pathogenic for breast cancer in ClinVar by most submitters.

An additional variant, c.7958T>G, p.Leu2653Arg or L2653R, is considered of unknown significance by the single submitter in ClinVar.

23andMe name for c.7958T>C: i6008338

ClinVar
Risk	rs80359022(C;C) rs80359022(G;G)
Alt	rs80359022(C;C) rs80359022(G;G)
Reference	Rs80359022(T;T)
Significance	Other
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32936812T>C; NC_000013.10:g.32936812T>G
CLNSRC	ClinVar
CLNACC	RCV000045355.4, RCV000113844.1, RCV000465947.1,