rs746229647

plus

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

Make rs746229647(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

32338201

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs746229647
dbSNP (classic)	rs746229647
ClinGen	rs746229647
ebi	rs746229647
HLI	rs746229647
Exac	rs746229647
Gnomad	rs746229647
Varsome	rs746229647
LitVar	rs746229647
Map	rs746229647
PheGenI	rs746229647
Biobank	rs746229647
1000 genomes	rs746229647
hgdp	rs746229647
ensembl	rs746229647
geneview	rs746229647
scholar	rs746229647
google	rs746229647
pharmgkb	rs746229647
gwascentral	rs746229647
openSNP	rs746229647
23andMe	rs746229647
SNPshot	rs746229647
SNPdbe	rs746229647
MSV3d	rs746229647
GWAS Ctlg	rs746229647

Status

Merged into rs80359405

Max Magnitude

6

rs746229647, also known as c.3847_3848delGT and p.Val1283Lysfs, and formerly also known as c.3846_3847delTG, represents a rare variant in the BRCA2 gene.

The minor allele is pathogenic for breast cancer according to multiple ClinVar sources, and it is also considered a founder mutation in some populations, for example, Denmark.

Note that the ClinVar accession sidebar/box to right (below) links to an outdated accession record for this mutation. The correct URL is http://www.ncbi.nlm.nih.gov/clinvar/variation/37859/.

ClinVar
Risk
Alt
Reference	Rs746229647(TG;TG)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32912339_32912340delGT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031440.8, RCV000044280.7, RCV000131095.3, RCV000160281.1,