C1055Y (p.Cys1055Tyr) variant of BLM (RecQ-like DNA helicase BLM)
C1055Y (p.Cys1055Tyr) 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 Bloom syndrome; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C1055Y (p.Cys1055Tyr) variant details
- p.Cys1055Tyr
- rs367543029
- ClinGen CA274767512
- ClinVar RCV000989396
- ClinVar RCV002320201
- Conflicting interpretations
- Bloom syndrome; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.85
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Bloom syndrome; Hereditary cancer-predisposing syndrome; not pro)
- EBI: Pathogenic (in BLM)
- UniProt: Pathogenic (in BLM)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-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)