ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2630G>C (p.Ser877Thr) (rs370269552)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000211985 SCV000149070 uncertain significance not provided 2018-07-18 criteria provided, single submitter clinical testing This variant is denoted ATM c.2630G>C at the cDNA level, p.Ser877Thr (S877T) at the protein level, and results in the change of a Serine to a Threonine (AGT>ACT). In a large meta-analysis by Tavtigian et al. (2009), this variant was reported at similar frequencies in breast cancer cases (3/2531) and controls (3/2245). ATM Ser877Thr was not observed at a significant allele frequency in large population cohorts (Lek 2016). ATM Ser877Thr is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether ATM Ser877Thr is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000115161 SCV000184961 likely benign Hereditary cancer-predisposing syndrome 2018-03-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with mutation in same gene (phase unknown),in silico models in agreement (benign)
Invitae RCV000211985 SCV000219104 likely benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Color RCV000115161 SCV000910866 benign Hereditary cancer-predisposing syndrome 2015-09-09 criteria provided, single submitter clinical testing

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