ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln)

gnomAD frequency: 0.00001  dbSNP: rs765759912
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164315 SCV000214946 likely benign Hereditary cancer-predisposing syndrome 2024-03-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000228294 SCV000282970 likely benign Ataxia-telangiectasia syndrome 2024-01-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000164315 SCV000903054 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-11 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 1618 of the ATM protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with breast cancer (PMID: 30303537). This variant has been identified in 12/251334 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV000994709 SCV001148429 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000994709 SCV001752193 uncertain significance not provided 2023-06-29 criteria provided, single submitter clinical testing Observed in individuals with breast cancer (Girard et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27150160, 32616555, 34359559, 30303537, 28652578)
Sema4, Sema4 RCV000164315 SCV002535432 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-14 criteria provided, single submitter curation
Baylor Genetics RCV003474856 SCV004204423 uncertain significance Familial cancer of breast 2023-10-23 criteria provided, single submitter clinical testing

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