ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7541A>T (p.Tyr2514Phe)

dbSNP: rs1555123994
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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 RCV000561010 SCV000667894 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-15 criteria provided, single submitter clinical testing The p.Y2514F variant (also known as c.7541A>T), located in coding exon 50 of the ATM gene, results from an A to T substitution at nucleotide position 7541. The tyrosine at codon 2514 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001308161 SCV001497599 uncertain significance Ataxia-telangiectasia syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 2514 of the ATM protein (p.Tyr2514Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 482573). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATM protein function. 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.
Baylor Genetics RCV004569190 SCV005057046 uncertain significance Familial cancer of breast 2024-01-26 criteria provided, single submitter clinical testing

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