ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3403-15_3403-14insTA

gnomAD frequency: 0.00021  dbSNP: rs1555091084
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584266 SCV000687475 likely benign Hereditary cancer-predisposing syndrome 2020-06-16 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321688 SCV004027204 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492110 SCV004240580 likely benign Breast and/or ovarian cancer 2022-12-19 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355976 SCV001551015 benign Familial ovarian cancer no assertion criteria provided clinical testing The ATM c.3403-15_3403-14insTA variant was identified in the following databases: dbSNP (ID: rs3218681) “With Benign, other allele”, and in control databases in 144695 (40554 homozygous) of 258930 chromosomes at a frequency of 0.6 (Genome Aggregation Consortium Feb 27, 2017), falling on 3 transcripts with a population breakdown of: South Asian in 16377 (5070 homozygous) of 26642 chromosomes (freq: 0.6), European (Finnish) in 14916 (4483 homozygous) of 24280 chromosomes (freq: 0.6), Latino in 19186 (5780 homozygous) of 31316 chromosomes (freq: 0.6), Ashkenazi Jewish in 5646 (1697 homozygous) of 9232 chromosomes (freq: 0.6), Other in 3528 (1050 homozygous) of 5964 chromosomes (freq: 0.6), European (Non-Finnish) in 67483 (18810 homozygous) of 119980 chromosomes (freq: 0.6), African in 10689 (2402 homozygous) of 23444 chromosomes (freq: 0.5), and East Asian in 6870 (1262 homozygous) of 18072 chromosomes (freq: 0.4). 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 this variant meets our laboratory's criteria to be classified as benign.
PreventionGenetics, part of Exact Sciences RCV004553297 SCV004732077 likely benign ATM-related disorder 2019-07-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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