ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8751C>T (p.Gly2917=)

gnomAD frequency: 0.00001  dbSNP: rs779858366
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen RCV002221552 SCV002499276 likely benign Familial cancer of breast 2022-03-09 reviewed by expert panel curation The ATM c.8751C>T (p.Gly2917=) variant has a GnomAD (v2.1.1) allele frequency of 0.000%, which is below the ATM PM2 threshold of 0.001% (PM2_Supporting). It is a synonymous variant (BP7). This variant is not predicted to impact splicing in multiple RNA in silico tools (BP4). In summary, this variant meets criteria to be classified as likely benign based on the ACMG/AMP criteria applied, as specified by the HBOP Variant Curation Expert Panel.
Labcorp Genetics (formerly Invitae), Labcorp RCV000550389 SCV000622846 uncertain significance Ataxia-telangiectasia syndrome 2021-10-14 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (rs779858366, ExAC 0.001%). This sequence change affects codon 2917 of the ATM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATM protein.
Ambry Genetics RCV002376973 SCV002685866 likely benign Hereditary cancer-predisposing syndrome 2020-01-06 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.
Myriad Genetics, Inc. RCV002221552 SCV005083797 benign Familial cancer of breast 2024-06-20 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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