ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4777-4T>C

gnomAD frequency: 0.00001  dbSNP: rs756025941
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562207 SCV000660460 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-31 criteria provided, single submitter clinical testing The c.4777-4T>C intronic variant results from a T to C substitution 4 nucleotides upstream from coding exon 31 in the ATM gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001462822 SCV001666749 likely benign Ataxia-telangiectasia syndrome 2019-09-26 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004592610 SCV005082069 likely benign Familial cancer of breast 2024-05-21 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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