ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4777-10dup

dbSNP: rs1398289633
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704618 SCV000569226 likely benign not provided 2021-04-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184313 SCV001350263 likely benign Hereditary cancer-predisposing syndrome 2018-10-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000480799 SCV001623221 likely benign not specified 2024-12-18 criteria provided, single submitter clinical testing Variant summary: ATM c.4777-10dupT, also reported as IVS31-14 insT, 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 was absent in 251160 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4777-10dupT has been reported in the literature in individual(s) affected with breast cancer (Bernstein_2010), without strong evidence for causality. This report does not provide unequivocal conclusions about association of the variant with breast cancer or Ataxia-Telangiectasia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 20305132). ClinVar contains an entry for this variant (Variation ID: 420404). Based on the evidence outlined above, the variant was classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002056771 SCV002342433 likely benign Ataxia-telangiectasia syndrome 2024-12-29 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591422 SCV005085502 likely benign Familial cancer of breast 2024-05-21 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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