ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7694dup (p.Asn2565fs)

dbSNP: rs1591171790
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026718 SCV001189153 pathogenic Hereditary cancer-predisposing syndrome 2019-09-04 criteria provided, single submitter clinical testing The c.7694dupA pathogenic mutation, located in coding exon 51 of the ATM gene, results from a duplication of A at nucleotide position 7694, causing a translational frameshift with a predicted alternate stop codon (p.N2565Kfs*6). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001383310 SCV001582399 pathogenic Ataxia-telangiectasia syndrome 2023-01-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 827197). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn2565Lysfs*6) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872).
Myriad Genetics, Inc. RCV003316823 SCV004019772 pathogenic Familial cancer of breast 2023-04-03 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003316823 SCV004213950 likely pathogenic Familial cancer of breast 2021-11-30 criteria provided, single submitter clinical testing

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