C1055S (p.Cys1055Ser) variant of BLM (RecQ-like DNA helicase BLM)
C1055S (p.Cys1055Ser) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Bloom syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C1055S (p.Cys1055Ser) variant details
- p.Cys1055Ser
- rs367543029
- ClinGen CA298493
- ClinVar RCV000034904
- ClinVar RCV000569697
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.87
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Bloom syn)
- EBI: Pathogenic (in BLM)
- UniProt: Pathogenic (in BLM)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: The Bloom's syndrome gene product is homologous to RecQ helicases. (PMID 7585968)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)