N46S (p.Asn46Ser) variant of BLM (RecQ-like DNA helicase BLM)
N46S (p.Asn46Ser) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Bloom syndrome; Hereditary cancer-predisposing syndrome; Hereditary breast ovari. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
N46S (p.Asn46Ser) variant details
- p.Asn46Ser
- rs1237910576
- ClinGen CA393839432
- ClinVar RCV000699899
- ClinVar RCV001030678
- Conflicting interpretations
- Bloom syndrome; Hereditary cancer-predisposing syndrome; Hereditary breast ovari
- Missense
- Variant Prioritization Score for Impact Estimate 0.0979
- REVEL 0.06
- CADD 1.76
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Conflicting classifications of pathogenicity (Bloom syndrome; Hereditary cancer-predisposing syndrome; Heredit)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- 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)