ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.331+7G>A

gnomAD frequency: 0.00001  dbSNP: rs1184757004
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen RCV002221551 SCV002499300 uncertain significance Familial cancer of breast 2022-03-09 reviewed by expert panel curation The ATM c.331+7G>A variant has a GnomAD (v2.1.1) is a singleton in gnomAD v2.1.1 and therefore considered rare (PM2_Supporting). In silico splicing predictors (SpliceAI, Donor Loss: 0%, Donor Gain: 0%; NNSplice, no change) predict that this alteration will not have a significant impact on splicing (BP4). In summary, this variant meets criteria to be classified as a variant of uncertain significance. ACMG/AMP criteria applied, as specified by the HBOP Variant Curation Expert Panel.
Invitae RCV000536930 SCV000622409 likely benign Ataxia-telangiectasia syndrome 2023-12-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000583644 SCV000687466 likely benign Hereditary cancer-predisposing syndrome 2016-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000601434 SCV000719008 likely benign not specified 2017-04-26 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.
Myriad Genetics, Inc. RCV002221551 SCV005084876 likely benign Familial cancer of breast 2024-04-18 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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