ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8268+13A>T

gnomAD frequency: 0.00001  dbSNP: rs1400036072
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582722 SCV000687823 likely benign Hereditary cancer-predisposing syndrome 2016-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061694 SCV002335486 likely benign Ataxia-telangiectasia syndrome 2023-12-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506391 SCV002803560 likely benign Familial cancer of breast; Ataxia-telangiectasia syndrome 2021-07-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354371 SCV001548973 uncertain significance Malignant tumor of breast no assertion criteria provided clinical testing The ATM c.8268+13A>T variant was not identified in the literature nor was it identified in the dbSNP, Clinvitae, COGR, or LOVD 3.0 databases. The variant was identified in ClinVar (classified as likely benign by Color Genomics). The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The variant occurs outside of the splicing consensus sequence and 2 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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