ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2838+9C>T

dbSNP: rs370160823
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000456716 SCV000558354 likely benign Ataxia-telangiectasia syndrome 2024-11-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001178394 SCV001342832 likely benign Hereditary cancer-predisposing syndrome 2017-01-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001293473 SCV001482046 likely benign not specified 2024-12-16 criteria provided, single submitter clinical testing Variant summary: ATM c.2838+9C>T alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation 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 2.4e-05 in 251112 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2838+9C>T in individuals affected with Breast Cancer and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 414559). Based on the evidence outlined above, the variant was classified as likely benign.
Myriad Genetics, Inc. RCV004591353 SCV005084748 likely benign Familial cancer of breast 2024-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
PreventionGenetics, part of Exact Sciences RCV004551550 SCV004762119 likely benign ATM-related disorder 2023-05-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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