A3G (p.Ala3Gly) variant of SDHB (P21912)
A3G (p.Ala3Gly) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Gastrointestinal stromal tumor; Pheochromocytoma; Carney-Stratakis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- rs11203289
- ClinGen CA016202
- ClinVar RCV000013632
- ClinVar RCV000034690
- Benign/Likely benign
- Gastrointestinal stromal tumor; Pheochromocytoma; Carney-Stratakis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.56
- CADD 25.10
- PolyPhen-2 0.05
- SIFT 0.17
- ClinVar: Benign/Likely benign (Gastrointestinal stromal tumor; Pheochromocytoma; Carney-Stratak)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MBUTI population (allele frequency 0.21)
- Structural context available
- Cited in: Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. (PMID 18678321)
- Cited in: The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients. (PMID 19368708)