D41N (p.Asp41Asn) variant of MRE11 (P49959)
D41N (p.Asp41Asn) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- rs116679717
- ClinGen CA331830
- cosmic curated COSV60580
- ClinVar RCV000115904
- Benign/Likely benign
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.25
- CADD 12.60
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Benign/Likely benign (Ataxia-telangiectasia-like disorder; Hereditary cancer-predispos)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)