R15S (p.Arg15Ser) variant of BLM (RecQ-like DNA helicase BLM)
R15S (p.Arg15Ser) 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; Bloom syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R15S (p.Arg15Ser) variant details
- p.Arg15Ser
- rs148545569
- ClinGen CA274726323
- ClinVar RCV001990389
- ClinVar RCV003303521
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.19
- CADD 24.40
- PolyPhen-2 0.74
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Bloom syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- 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)