ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3077+4G>A (rs201222237)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213394 SCV000275928 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000430951 SCV000512152 benign not specified 2015-04-20 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.
Invitae RCV000469171 SCV000546998 likely benign Ataxia-telangiectasia syndrome 2017-12-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589172 SCV000694248 uncertain significance not provided 2017-02-16 criteria provided, single submitter clinical testing Variant summary: The ATM c.3077+4G>A variant involves the alteration of a non-conserved intronic nucleotide, which 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 10/120454 (1/12045), predominantly in the African cohort, 10/10206 (1/1020). This frequency is slightly lower or in similar range with that of the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005) based on the prevalence of HBOC. This finding suggests that it may be a benign polymorphism found primarily in the populations of African origin. For comparison, the most well-known splice site pathogenic variant in African Americans is c.2851-10T>G, which is not found in about 120,000 ExAC chromosomes at all. One clinical diagnostic laboratory has classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Although, a clinical diagnostic laboratory classified this variant as uncertain significance. Taken together, this variant is classified as a "Variant of Uncertain Significance - Possibly Benign."
Color RCV000213394 SCV000903068 likely benign Hereditary cancer-predisposing syndrome 2016-02-10 criteria provided, single submitter clinical testing

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