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rs11571658

From SNPedia

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


Make rs11571658(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340630
GeneBRCA2
is asnp
is mentioned by
dbSNPrs11571658
ebirs11571658
HLIrs11571658
Exacrs11571658
Varsomers11571658
Maprs11571658
PheGenIrs11571658
hapmaprs11571658
1000 genomesrs11571658
hgdprs11571658
ensemblrs11571658
gopubmedrs11571658
geneviewrs11571658
scholarrs11571658
googlers11571658
pharmgkbrs11571658
gwascentralrs11571658
openSNPrs11571658
23andMers11571658
23andMe allrs11571658
SNP Nexus

SNPshotrs11571658
SNPdbers11571658
MSV3drs11571658
GWAS Ctlgrs11571658
Max Magnitude6
rs11571658, also known as 6503delTT, c.6275_6276delTT and p.Leu2092Profs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs11571658(;)
Alt rs11571658(;)
Reference rs11571658(TT;TT)
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.32914767_32914768delTT
CLNSRC Breast Cancer Information Core (BRCA2) Inc. OMIM Allelic Variant
CLNACC RCV000009903.13, RCV000044884.6, RCV000131029.3, RCV000160300.2,