ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2805G>C (p.Thr935=) (rs55934812)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000123732 SCV000212981 likely benign Hereditary cancer-predisposing syndrome 2014-08-19 criteria provided, single submitter clinical testing
Color RCV000123732 SCV000537452 likely benign Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing
Counsyl RCV000122836 SCV000792119 likely benign Ataxia-telangiectasia syndrome 2017-06-08 criteria provided, single submitter clinical testing
GeneDx RCV000211989 SCV000167075 benign not specified 2013-10-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000586912 SCV000694235 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing Variant summary: The ATM c.2805G>C (p.Thr935Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant of interest has been found in a large, broad control population, ExAC in 36/121958 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.00048 (32/66730), which does not exceed the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005). This variant was found in multiple studies in BC patients but also controls (Teraoka_Cancer_2001, Bernstein_JNCI_2010, Mangone_Springerplus_2015). Multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000122836 SCV000166094 likely benign Ataxia-telangiectasia syndrome 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000586912 SCV000805527 likely benign not provided 2017-04-03 criteria provided, single submitter clinical testing

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