ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.119C>G (p.Ala40Gly)

gnomAD frequency: 0.00001  dbSNP: rs750184645
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571997 SCV001796567 uncertain significance not provided 2023-05-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001866036 SCV002202734 uncertain significance Fanconi anemia 2023-03-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 40 of the FANCM protein (p.Ala40Gly). This variant is present in population databases (rs750184645, gnomAD 0.003%). 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. 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. ClinVar contains an entry for this variant (Variation ID: 1205354). This variant has not been reported in the literature in individuals affected with FANCM-related conditions.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001571997 SCV005626240 uncertain significance not provided 2024-07-03 criteria provided, single submitter clinical testing The FANCM c.119C>G (p.Ala40Gly) variant has been reported in the published literature in an individual affected with ovarian cancer as well as reportedly healthy individual (PMID: 28881617 (2017)). The frequency of this variant in the general population, 0.000026 (3/113588 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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