rs80358920

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6	Possible miscall in data from Ancestry v2c chip; otherwise, BRCA2 variant considered pathogenic for breast cancer

Make rs80358920(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32346841

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358920
dbSNP (classic)	rs80358920
ClinGen	rs80358920
ebi	rs80358920
HLI	rs80358920
Exac	rs80358920
Gnomad	rs80358920
Varsome	rs80358920
LitVar	rs80358920
Map	rs80358920
PheGenI	rs80358920
Biobank	rs80358920
1000 genomes	rs80358920
hgdp	rs80358920
ensembl	rs80358920
geneview	rs80358920
scholar	rs80358920
google	rs80358920
pharmgkb	rs80358920
gwascentral	rs80358920
openSNP	rs80358920
23andMe	rs80358920
SNPshot	rs80358920
SNPdbe	rs80358920
MSV3d	rs80358920
GWAS Ctlg	rs80358920

Max Magnitude

6

rs80358920, also known as R2318X, c.6952C>T and p.Arg2318Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

On their v4 chip, 23andMe called this i5009344, and it was prone to being a false positive (miscall).

ClinVar
Risk	rs80358920(G;G) rs80358920(T;T)
Alt	rs80358920(G;G) rs80358920(T;T)
Reference	Rs80358920(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome not specified Breast-ovarian cancer not provided Neoplasm of breast
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome not specified Breast-ovarian cancer, familial 2 not provided Neoplasm of breast
Reversed	0
HGVS	NC_000013.10:g.32920978C>G; NC_000013.10:g.32920978C>T
CLNSRC	ClinVar
CLNACC	RCV000461532.1, RCV000485650.1, RCV000031658.6, RCV000045095.6, RCV000212256.2, RCV000240678.1,