rs80359439

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;T)	6	Likely miscall in 23andMe v5 data; otherwise, BRCA2 variant considered pathogenic for breast cancer

Make rs80359439(T;T)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32338637

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359439
dbSNP (classic)	rs80359439
ClinGen	rs80359439
ebi	rs80359439
HLI	rs80359439
Exac	rs80359439
Gnomad	rs80359439
Varsome	rs80359439
LitVar	rs80359439
Map	rs80359439
PheGenI	rs80359439
Biobank	rs80359439
1000 genomes	rs80359439
hgdp	rs80359439
ensembl	rs80359439
geneview	rs80359439
scholar	rs80359439
google	rs80359439
pharmgkb	rs80359439
gwascentral	rs80359439
openSNP	rs80359439
23andMe	rs80359439
SNPshot	rs80359439
SNPdbe	rs80359439
MSV3d	rs80359439
GWAS Ctlg	rs80359439

Merged from

Rs606231401, Rs80359440

Max Magnitude

6

rs80359439, also known as 4510insT, c.4282_4283insT and p.Phe1428?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359439(T;T)
Alt	rs80359439(T;T)
Reference	Rs80359439(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32912776dupT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031473.11, RCV000044387.6, RCV000130074.4, RCV000160287.3,