A7V (p.Ala7Val) variant of NBN (Nibrin)
A7V (p.Ala7Val) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i. 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.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs781057669
- ClinGen CA181286152
- ClinVar RCV001236445
- ClinVar RCV002418811
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i
- Missense
- Variant Prioritization Score for Impact Estimate 0.097
- REVEL 0.03
- CADD 4.26
- PolyPhen-2 0.03
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Microcephaly, normal in)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)