ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6006+8T>C

gnomAD frequency: 0.00001  dbSNP: rs56019194
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465701 SCV000558381 likely benign Ataxia-telangiectasia syndrome 2024-12-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580088 SCV000682297 likely benign Hereditary cancer-predisposing syndrome 2017-01-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193663 SCV001362657 likely benign not specified 2023-08-28 criteria provided, single submitter clinical testing Variant summary: ATM c.6006+8T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 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 0.00011 in 250578 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in ATM causing Breast Cancer (0.00011 vs 0.001), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.6006+8T>C in individuals affected with Breast Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Four submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
GeneDx RCV001653846 SCV001869305 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000580088 SCV002537539 likely benign Hereditary cancer-predisposing syndrome 2020-07-08 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV004591368 SCV005082708 likely benign Familial cancer of breast 2024-05-28 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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