ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1228A>G (p.Ser410Gly)

dbSNP: rs1185542329
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531310 SCV000634206 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2024-01-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 410 of the NBN protein (p.Ser410Gly). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with breast cancer (PMID: 35264596). ClinVar contains an entry for this variant (Variation ID: 461495). 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 tolerated. 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.
Mendelics RCV000531310 SCV000838304 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2018-07-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000531310 SCV002044685 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367817 SCV002663862 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-30 criteria provided, single submitter clinical testing The p.S410G variant (also known as c.1228A>G), located in coding exon 10 of the NBN gene, results from an A to G substitution at nucleotide position 1228. The serine at codon 410 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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