ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7788+8G>T (rs112775908)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115256 SCV000149165 benign not specified 2015-04-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000119166 SCV000153893 benign Ataxia-telangiectasia syndrome 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000115256 SCV000301684 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000115256 SCV000602565 likely benign not specified 2017-01-03 criteria provided, single submitter clinical testing
Color Health, Inc RCV000579980 SCV000682434 likely benign Hereditary cancer-predisposing syndrome 2015-01-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589845 SCV000694360 benign not provided 2017-02-09 criteria provided, single submitter clinical testing
Counsyl RCV000119166 SCV000792935 likely benign Ataxia-telangiectasia syndrome 2017-07-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000589845 SCV000805617 likely benign not provided 2016-06-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000589845 SCV000840964 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000115256 SCV000854937 likely benign not specified 2018-05-29 criteria provided, single submitter clinical testing
Mendelics RCV000119166 SCV001138567 likely benign Ataxia-telangiectasia syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000589845 SCV001148446 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119166 SCV001261063 uncertain significance Ataxia-telangiectasia syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
True Health Diagnostics RCV000579980 SCV000886666 likely benign Hereditary cancer-predisposing syndrome 2018-08-07 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001357795 SCV001553377 likely benign Malignant tumor of breast no assertion criteria provided clinical testing ATM, EXON52, c.7788+8G>T, r.(spl)?, Heterozygous, Likely Benign The ATM c.7788+8G>T variant was not identified in the literature nor was it identified in the Cosmic, MutDB, or LOVD 3.0 databases. The variant was identified in the following databases: dbSNP (ID: rs112775908) as “With other allele”, ClinVar (as likely benign by ARUP Laboratories and PreventionGenetics, and as benign by GeneDx and Invitae), Clinvitae (as likely benign and benign). The variant was identified in control databases in 404 of 276410 chromosomes (1 homozygous) at a frequency of 0.001462 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database Feb 27, 2017). Observations by population include African in 7 of 24012 chromosomes (freq: 0.000292), Other in 4 of 6446 chromosomes (freq: 0.000621), Latino in 18 of 34394 chromosomes (freq: 0.000523), European (Non-Finnish) in 355 (1 homozygous) of 126082 chromosomes (freq: 0.002816), Ashkenazi Jewish in 11 of 10126 chromosomes (freq: 0.001086), and European (Finnish) in 9 of 25766 chromosomes (freq: 0.000349), while the variant was not observed in the East Asian and South Asian populations. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000589845 SCV001740244 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000589845 SCV001797407 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000589845 SCV001809671 likely benign not provided no assertion criteria provided clinical testing

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