C1055R (p.Cys1055Arg) variant of BLM (RecQ-like DNA helicase BLM)
C1055R (p.Cys1055Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C1055R (p.Cys1055Arg) variant details
- p.Cys1055Arg
- rs746218707
- ClinGen CA7738945
- ClinVar RCV000664476
- ClinVar RCV002325337
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.91
- CADD 28.80
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Bloom syndrome)
- EBI: Likely pathogenic (in BLM)
- UniProt: Likely pathogenic (in BLM)
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)