G2765A (p.Gly2765Ala) variant of ATM (Serine-protein kinase ATM)
G2765A (p.Gly2765Ala) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
G2765A (p.Gly2765Ala) variant details
- p.Gly2765Ala
- rs1565557835
- ClinGen CA382516330
- ClinVar RCV002999492
- ClinVar RCV005505546
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)