T36A (p.Thr36Ala) variant of BLM (RecQ-like DNA helicase BLM)
T36A (p.Thr36Ala) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T36A (p.Thr36Ala) variant details
- p.Thr36Ala
- rs1714362154
- ClinGen CA393839306
- ClinVar RCV002024609
- ClinVar RCV002407317
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.15
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Bloom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)