ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2751C>T (p.Ser917=)

gnomAD frequency: 0.00003  dbSNP: rs876659611
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584244 SCV000687415 likely benign Hereditary cancer-predisposing syndrome 2016-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001457278 SCV001661079 likely benign Ataxia-telangiectasia syndrome 2024-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584244 SCV002750273 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-10 criteria provided, single submitter clinical testing The c.2751C>T variant (also known as p.S917S), located in coding exon 17 of the ATM gene, results from a C to T substitution at nucleotide position 2751. This nucleotide substitution does not change the serine at codon 917. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. RNA studies have demonstrated that this alteration results in an incomplete splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc. RCV004592467 SCV005085054 benign Familial cancer of breast 2024-05-10 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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