ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6431A>G (p.Tyr2144Cys)

dbSNP: rs1555116507
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000579530 SCV000682336 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476262 SCV002794159 uncertain significance Familial cancer of breast; Ataxia-telangiectasia syndrome 2021-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003605654 SCV004456303 uncertain significance Ataxia-telangiectasia syndrome 2023-05-30 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 489572). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 2144 of the ATM protein (p.Tyr2144Cys).

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