ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.72+4G>A

dbSNP: rs1458884973
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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 RCV000793787 SCV000933159 uncertain significance Ataxia-telangiectasia syndrome 2023-09-21 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.006%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 640705). This variant has not been reported in the literature in individuals affected with ATM-related conditions.
Myriad Genetics, Inc. RCV004588253 SCV005083001 likely benign Familial cancer of breast 2024-04-17 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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