C901Y (p.Cys901Tyr) variant of BLM (RecQ-like DNA helicase BLM)
C901Y (p.Cys901Tyr) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Bloom syndrome; not provided. 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.
C901Y (p.Cys901Tyr) variant details
- p.Cys901Tyr
- rs758311406
- ClinGen CA7738860
- cosmic curated COSV99049
- ClinVar RCV001224607
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Bloom syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.88
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Bloom syndrome; not pro)
- EBI: Pathogenic (in BLM)
- UniProt: Pathogenic (in BLM)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. (PMID 17407155)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)