ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.445C>T (p.His149Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1161054161
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research RCV001090212 SCV001245510 uncertain significance Familial cancer of breast criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862672 SCV002140759 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2023-11-16 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 149 of the NBN protein (p.His149Tyr). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with NBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 870649). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002327376 SCV002638449 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-21 criteria provided, single submitter clinical testing The p.H149Y variant (also known as c.445C>T), located in coding exon 4 of the NBN gene, results from a C to T substitution at nucleotide position 445. The histidine at codon 149 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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