ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8923G>C (p.Glu2975Gln)

dbSNP: rs2091208125
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Medical Genetics, University of Washington RCV001257487 SCV001434298 uncertain significance Familial cancer of breast 2020-02-25 criteria provided, single submitter clinical testing To our knowledge, this sequence variant has not been previously reported in the literature. This variant is not present in population databases (https://gnomad.broadinstitute.org/). In silico analyses indicate this is an evolutionarily conserved residue. Thus, it is unknown at this time whether this variant increases cancer risk. PM2; PP3

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