ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs)

dbSNP: rs2085200653
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001251403 SCV001426990 pathogenic Malignant tumor of breast 2024-06-24 criteria provided, single submitter clinical testing Variant summary: ATM c.6527_6530dupTGCA (p.Gln2177HisfsX21) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251448 control chromosomes. To our knowledge, no occurrence of c.6527_6530dupTGCA in individuals affected with Breast Cancer and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 975008). Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV003462832 SCV004213955 likely pathogenic Familial cancer of breast 2021-11-22 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003462832 SCV004933845 pathogenic Familial cancer of breast 2024-01-30 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics RCV004035303 SCV005019256 pathogenic Hereditary cancer-predisposing syndrome 2024-03-12 criteria provided, single submitter clinical testing The c.6527_6530dupTGCA pathogenic mutation, located in coding exon 44 of the ATM gene, results from a duplication of TGCA at nucleotide position 6527, causing a translational frameshift with a predicted alternate stop codon (p.Q2177Hfs*21). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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