ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3844C>A (p.Leu1282Ile)

dbSNP: rs876660568
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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 RCV000216470 SCV000278104 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-21 criteria provided, single submitter clinical testing The p.L1282I variant (also known as c.3844C>A), located in coding exon 25 of the ATM gene, results from a C to A substitution at nucleotide position 3844. The leucine at codon 1282 is replaced by isoleucine, an amino acid with highly similar properties. This alteration has been reported in at least one subject in a study of 13087 breast cancer cases and 5488 control individuals in the UK (Decker B et al. J Med Genet, 2017 11;54:732-741). This variant was also reported in 1/5560 prostate cancer cases and in 0/3353 controls of European ancestry (Karlsson Q et al. Eur Urol Oncol, 2021 Aug;4:570-579). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000540571 SCV000622458 uncertain significance Ataxia-telangiectasia syndrome 2023-06-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 233679). This missense change has been observed in individual(s) with prostate cancer (PMID: 33436325). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1282 of the ATM protein (p.Leu1282Ile). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV003469084 SCV004210167 uncertain significance Familial cancer of breast 2023-07-13 criteria provided, single submitter clinical testing

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