R15C (p.Arg15Cys) variant of BLM (RecQ-like DNA helicase BLM)
R15C (p.Arg15Cys) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R15C (p.Arg15Cys) variant details
- p.Arg15Cys
- rs148545569
- ClinGen CA7738228
- cosmic curated COSV61922
- ClinVar RCV000227410
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.18
- CADD 29.70
- PolyPhen-2 0.83
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00056)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)