V4D (p.Val4Asp) variant of BLM (RecQ-like DNA helicase BLM)
V4D (p.Val4Asp) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Bloom syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V4D (p.Val4Asp) variant details
- p.Val4Asp
- rs144706057
- ClinGen CA7738223
- ClinVar RCV001968253
- ClinVar RCV004044456
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.27
- CADD 26.00
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Bloom syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 5.8e-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)