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rs34677591

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 2 either just a polymorphism, or, a slight cancer predisposing mutation
(G;G) 0 common in clinvar


Make rs34677591(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position112086941
GeneSDHD, TIMM8B
is asnp
is mentioned by
dbSNPrs34677591
ebirs34677591
HLIrs34677591
Exacrs34677591
Varsomers34677591
Maprs34677591
PheGenIrs34677591
hapmaprs34677591
1000 genomesrs34677591
hgdprs34677591
ensemblrs34677591
gopubmedrs34677591
geneviewrs34677591
scholarrs34677591
googlers34677591
pharmgkbrs34677591
gwascentralrs34677591
openSNPrs34677591
23andMers34677591
23andMe allrs34677591
SNP Nexus

SNPshotrs34677591
SNPdbers34677591
MSV3drs34677591
GWAS Ctlgrs34677591
GMAF0.005969
Max Magnitude2

rs34677591, also known as c.34G>A, p.Gly12Ser and G12S, is a SNP in the SDHD gene on chromosome 11.

Defining the effect of this SNP has been difficult, and different investigators have come to different conclusions. In summary, the rare rs34677591(A) allele is either a a low-penetrance mutation or a rare polymorphism. The cancers most often mentioned in association with G12S are paragangliomas and pheochromocytomas. The G12S mutation has also been associated with increased manganese superoxide dismutase expression.

For a good summary of the studies involved, see OMIM 602690.0011.

OMIM602690
Desc
Variant0011
Relatedalso


ClinVar
Risk rs34677591(A;A)
Alt rs34677591(A;A)
Reference rs34677591(G;G)
Significance Other
Disease Cowden syndrome 3 Paragangliomas 1 Carcinoid tumor of intestine Pheochromocytoma not provided not specified Hereditary cancer-predisposing syndrome Paraganglioma and gastric stromal sarcoma
Variation info
Gene TIMM8B SDHD
CLNDBN Cowden syndrome 3 Paragangliomas 1 Carcinoid tumor of intestine Pheochromocytoma not provided not specified Hereditary cancer-predisposing syndrome Paraganglioma and gastric stromal sarcoma
Reversed 0
HGVS NC_000011.9:g.111957665G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007299.3, RCV000007300.4, RCV000007301.3, RCV000007302.3, RCV000034697.1, RCV000122006.2, RCV000162470.1, RCV000205558.2,



GET Evidence
SDHD-G12S
aa_change Gly12Ser
aa_change_short G12S
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.008087
summary