Q672R (p.Gln672Arg) variant of BLM (RecQ-like DNA helicase BLM)
Q672R (p.Gln672Arg) 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; not provided; Bloom syndrome. 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.
Q672R (p.Gln672Arg) variant details
- p.Gln672Arg
- rs747281324
- ClinGen CA274191
- cosmic curated COSV61922
- ClinVar RCV000169338
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.96
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Bloom syn)
- EBI: Pathogenic (in BLM)
- UniProt: Pathogenic (in BLM)
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)