ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6163A>G (p.Ile2055Val)

gnomAD frequency: 0.00002  dbSNP: rs758038580
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575718 SCV000665595 likely benign Hereditary cancer-predisposing syndrome 2024-03-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000575718 SCV000904702 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001208530 SCV001379923 uncertain significance Ataxia-telangiectasia syndrome 2023-09-14 criteria provided, single submitter clinical testing 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: 481290). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (rs758038580, gnomAD 0.02%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2055 of the ATM protein (p.Ile2055Val).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001779010 SCV002014931 uncertain significance not specified 2021-10-16 criteria provided, single submitter clinical testing
GeneDx RCV004592684 SCV005078828 uncertain significance not provided 2023-11-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with breast cancer in published literature (PMID: 36200007); This variant is associated with the following publications: (PMID: 23532176, 36200007)

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