ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7342G>A (p.Asp2448Asn)

dbSNP: rs1591160022
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026300 SCV001188652 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-07 criteria provided, single submitter clinical testing The p.D2448N variant (also known as c.7342G>A), located in coding exon 49 of the ATM gene, results from a G to A substitution at nucleotide position 7342. The aspartic acid at codon 2448 is replaced by asparagine, an amino acid with highly similar properties. This alteration has been reported in 1 of 7051 unselected breast cancer patients and 0 of 11241 female controls of Japanese ancestry (Momozawa Y et al. Nat Commun, 2018 10;9:4083). This amino acid position is highly 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.
Color Diagnostics, LLC DBA Color Health RCV001026300 SCV001348156 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001349172 SCV001543502 uncertain significance Ataxia-telangiectasia syndrome 2024-01-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 2448 of the ATM protein (p.Asp2448Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 30287823). ClinVar contains an entry for this variant (Variation ID: 826978). 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 disruptive. 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 RCV003467689 SCV004210136 uncertain significance Familial cancer of breast 2023-07-21 criteria provided, single submitter clinical testing

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