N45S (p.Asn45Ser) variant of BLM (RecQ-like DNA helicase BLM)
N45S (p.Asn45Ser) 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; Hereditary breast ovarian cancer syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
N45S (p.Asn45Ser) variant details
- p.Asn45Ser
- rs1555418242
- ClinGen CA393839418
- cosmic curated COSV61926
- ClinVar RCV000529582
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary breast ovarian cancer syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.0462
- REVEL 0.03
- CADD 0.96
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary breast ovari)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)