G12S (p.Gly12Ser) variant of SDHD (O14521)
G12S (p.Gly12Ser) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Mitochondrial complex 2 deficiency, nuclear type 3; Carney-Stratakis syndrome; P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- rs34677591
- ClinGen CA016980
- cosmic curated COSV54777
- ClinVar RCV000007299
- Conflicting interpretations
- Mitochondrial complex 2 deficiency, nuclear type 3; Carney-Stratakis syndrome; P
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.57
- AlphaMissense 0.09
- MetaLR 0.40
- MetaSVM -0.16
- CADD 14.00
- PolyPhen-2 0.01
- ClinVar: Conflicting classifications of pathogenicity (Mitochondrial complex 2 deficiency, nuclear type 3; Carney-Strat)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MOZABITE population (allele frequency 0.06)
- Structural context available
- Cited in: Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. (PMID 10657297)
- Cited in: Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. (PMID 11156372)