ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.103C>A (p.Arg35=) (rs55861249)

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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 RCV000162607 SCV000213034 likely benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing
Invitae RCV001084288 SCV000282858 likely benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000242698 SCV000301649 likely benign not specified criteria provided, single submitter clinical testing
Color RCV000162607 SCV000681948 likely benign Hereditary cancer-predisposing syndrome 2015-08-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000242698 SCV000694168 likely benign not specified 2020-07-30 criteria provided, single submitter clinical testing Variant summary: ATM c.103C>A alters a conserved nucleotide resulting in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 7.2e-05 in 251230 control chromosomes, predominantly at a frequency of 0.0008 within the African or African-American subpopulation in the gnomAD database. This frequency is approximately equal to the estimated maximal expected allele frequency for a pathogenic variant in ATM causing Breast Cancer (0.001), suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. c.103C>A has been reported in the literature without evidence for causality (e.g. Gumy Pause_2003, Bernstein_2010). These reports do not provide unequivocal conclusions about association of the variant with Breast Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four ClinVar submitters (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
PreventionGenetics,PreventionGenetics RCV000589960 SCV000805488 likely benign not provided 2016-03-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000589960 SCV001148397 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing

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