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rs746229647

From SNPedia

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


Make rs746229647(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32338201
GeneBRCA2
is asnp
is mentioned by
dbSNPrs746229647
ebirs746229647
HLIrs746229647
Exacrs746229647
Varsomers746229647
Maprs746229647
PheGenIrs746229647
hapmaprs746229647
1000 genomesrs746229647
hgdprs746229647
ensemblrs746229647
gopubmedrs746229647
geneviewrs746229647
scholarrs746229647
googlers746229647
pharmgkbrs746229647
gwascentralrs746229647
openSNPrs746229647
23andMers746229647
23andMe allrs746229647
SNP Nexus

SNPshotrs746229647
SNPdbers746229647
MSV3drs746229647
GWAS Ctlgrs746229647
Max Magnitude6

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Note that the ClinVar accession sidebar/box to right (below) links to an outdated accession record for this mutation.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 rs746229647(;)
Alt rs746229647(;)
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 RCV000031440.7, RCV000044280.7, RCV000131095.2, RCV000160281.1,