M50R (p.Met50Arg) variant of FAN1 (Fanconi-associated nuclease 1)
M50R (p.Met50Arg) in FAN1 (Fanconi-associated nuclease 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary breast ovarian cancer syndrome; Hereditary cancer; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
M50R (p.Met50Arg) variant details
- p.Met50Arg
- rs148404807
- ClinGen CA7449990
- cosmic curated COSV10075
- ClinVar RCV000879461
- Conflicting interpretations
- Hereditary breast ovarian cancer syndrome; Hereditary cancer; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.76
- CADD 27.40
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary breast ovarian cancer syndrome; Hereditary cancer; no)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)