T68N (p.Thr68Asn) variant of BLM (RecQ-like DNA helicase BLM)
T68N (p.Thr68Asn) 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 Bloom syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T68N (p.Thr68Asn) variant details
- p.Thr68Asn
- rs144134597
- ClinGen CA7738257
- ClinVar RCV002023486
- ClinVar RCV002423269
- Uncertain significance
- Bloom syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.11
- CADD 6.77
- PolyPhen-2 0.03
- SIFT 0.24
- ClinVar: Uncertain significance (Bloom syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)