rs80358979

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	5	BRCA2 variant considered pathogenic for breast cancer
(T;T)	0	common in clinvar

Make rs80358979(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32356521

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358979
dbSNP (classic)	rs80358979
ClinGen	rs80358979
ebi	rs80358979
HLI	rs80358979
Exac	rs80358979
Gnomad	rs80358979
Varsome	rs80358979
LitVar	rs80358979
Map	rs80358979
PheGenI	rs80358979
Biobank	rs80358979
1000 genomes	rs80358979
hgdp	rs80358979
ensembl	rs80358979
geneview	rs80358979
scholar	rs80358979
google	rs80358979
pharmgkb	rs80358979
gwascentral	rs80358979
openSNP	rs80358979
23andMe	rs80358979
SNPshot	rs80358979
SNPdbe	rs80358979
MSV3d	rs80358979
GWAS Ctlg	rs80358979

Max Magnitude

5

aka c.7529T>C (p.Leu2510Pro)

Classified as a BRCA2 gene pathogenic mutation for breast cancer based on likelihood cited in ClinVar and in [PMID 29394989]

OMIM	600185
Desc
Variant	0030
Related	also

ClinVar
Risk	rs80358979(C;C)
Alt	rs80358979(C;C)
Reference	Rs80358979(T;T)
Significance	Pathogenic
Disease	Fanconi anemia Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA2
CLNDBN	Fanconi anemia, complementation group D1 Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed	0
HGVS	NC_000013.10:g.32930658T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009936.6, RCV000045238.2, RCV000113772.1, RCV000478444.1,