ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3746+12C>A

gnomAD frequency: 0.00001  dbSNP: rs768841674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002547674 SCV003507674 likely benign Ataxia-telangiectasia syndrome 2024-12-31 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357836 SCV001553424 uncertain significance Malignant tumor of breast no assertion criteria provided clinical testing The ATM c.3746+12C>A variant was not identified in the literature nor was it identified in the ClinVar, or LOVD 3.0 databases. The variant was also identified in dbSNP (ID: rs768841674).The variant was identified in control databases in 3 of 227744 chromosomes at a frequency of 0.00001 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the East Asian population in 3 of 16038 chromosomes (freq: 0.0002), while the variant was not observed in the African, Other, Latino, European, Ashkenazi Jewish, Finnish, and South Asian populations. The variant occurs outside of the splicing consensus sequence and 1 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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