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rs397507322

From SNPedia

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


Make rs397507322(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338413
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507322
dbSNP (classic)rs397507322
ClinGenrs397507322
ebirs397507322
HLIrs397507322
Exacrs397507322
Gnomadrs397507322
Varsomers397507322
LitVarrs397507322
Maprs397507322
PheGenIrs397507322
Biobankrs397507322
1000 genomesrs397507322
hgdprs397507322
ensemblrs397507322
geneviewrs397507322
scholarrs397507322
googlers397507322
pharmgkbrs397507322
gwascentralrs397507322
openSNPrs397507322
23andMers397507322
SNPshotrs397507322
SNPdbers397507322
MSV3drs397507322
GWAS Ctlgrs397507322
Max Magnitude6

aka c.4058_4062delAAACG (p.Glu1353Glyfs)

ClinVar
Risk rs397507322(-;-)
Alt rs397507322(-;-)
Reference Rs397507322(GAAAC;GAAAC)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32912550_32912554delAAACG
CLNSRC ClinVar
CLNACC RCV000031456.5, RCV000198983.2, RCV000223041.2,