D70N (p.Asp70Asn) variant of BLM (RecQ-like DNA helicase BLM)
D70N (p.Asp70Asn) 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 not provided; Hereditary cancer-predisposing syndrome; Bloom syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
D70N (p.Asp70Asn) variant details
- p.Asp70Asn
- rs769957028
- ClinGen CA7738260
- ClinVar RCV000628617
- ClinVar RCV001014393
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.07
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Bloom syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)