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rs786202798

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGTAA;AGTAA) 0 common in clinvar
(AGTAA;C) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs786202798(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position32339576
GeneBRCA2
is asnp
is mentioned by
dbSNPrs786202798
dbSNP (old)rs786202798
ClinGenrs786202798
ebirs786202798
HLIrs786202798
Exacrs786202798
Gnomadrs786202798
Varsomers786202798
Maprs786202798
PheGenIrs786202798
Biobankrs786202798
1000 genomesrs786202798
hgdprs786202798
ensemblrs786202798
gopubmedrs786202798
geneviewrs786202798
scholarrs786202798
googlers786202798
pharmgkbrs786202798
gwascentralrs786202798
openSNPrs786202798
23andMers786202798
23andMe allrs786202798
SNP Nexus

SNPshotrs786202798
SNPdbers786202798
MSV3drs786202798
GWAS Ctlgrs786202798
Max Magnitude6

rs786202798, also known as c.5221_5225delAGTAAinsC, represents a rare mutation in the BRCA2 gene.

The minor/rare allele is considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs786202798(C;C)
Alt rs786202798(C;C)
Reference Rs786202798(AGTAA;AGTAA)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32913713_32913717delAGTAAinsC
CLNSRC
CLNACC RCV000165792.1,