ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4179C>A (p.Ile1393=)

gnomAD frequency: 0.00001  dbSNP: rs775688446
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223265 SCV000273841 likely benign Hereditary cancer-predisposing syndrome 2015-02-09 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 RCV000459167 SCV000558320 likely benign Ataxia-telangiectasia syndrome 2025-01-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000223265 SCV000682188 likely benign Hereditary cancer-predisposing syndrome 2016-06-13 criteria provided, single submitter clinical testing
GeneDx RCV001640341 SCV001856216 benign not provided 2015-05-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818519 SCV002065053 likely benign not specified 2017-08-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000223265 SCV002534590 likely benign Hereditary cancer-predisposing syndrome 2021-07-30 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001818519 SCV004243441 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004589930 SCV005082829 benign Familial cancer of breast 2024-05-16 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.
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000223265 SCV005688817 likely benign Hereditary cancer-predisposing syndrome 2024-11-29 criteria provided, single submitter clinical testing The synonymous variant NM_000051.4(ATM):c.4179C>A (p.Ile1393=) has been reported to ClinVar as Benign/Likely benign with a status of (2 stars) criteria provided, multiple submitters, no conflicts (Variation ID 230328 as of 2024-11-07). The p.Ile1393= variant is observed in 1/113,580 (0.0009%) alleles from individuals of gnomAD Non Finnish European background in gnomAD. The p.Ile1393= variant is not predicted to disrupt an existing splice site. For these reasons, this variant has been classified as Likely Benign.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005361266 SCV005919114 likely benign Familial colorectal cancer type X 2023-12-28 criteria provided, single submitter clinical testing

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