A34G (p.Ala34Gly) variant of SDHB (P21912)
A34G (p.Ala34Gly) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome; Pheochr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A34G (p.Ala34Gly) variant details
- p.Ala34Gly
- rs867908217
- ClinGen CA338228313
- ClinVar RCV001009717
- ClinVar RCV003769421
- Uncertain significance
- Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome; Pheochr
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.40
- AlphaMissense 0.11
- MetaLR 0.86
- MetaSVM 0.65
- CADD 17.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Hereditary cancer-predisposing s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)