ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3024_3025del (p.Asn1010fs)

dbSNP: rs2135553856
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001775271 SCV002012009 pathogenic Ataxia-telangiectasia syndrome 2021-10-02 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed in trans with a pathogenic variant (NM_000051.3: c.8464_8467del) as compound heterozygous (3billion dataset, PM3). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Myriad Genetics, Inc. RCV004040767 SCV004933723 pathogenic Familial cancer of breast 2024-01-18 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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