ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2250+4G>A

dbSNP: rs1565395217
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773303 SCV000906995 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000773303 SCV002728837 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-29 criteria provided, single submitter clinical testing The c.2250+4G>A intronic variant results from a G to A substitution 4 nucleotides after coding exon 13 in the ATM gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003237352 SCV003936040 uncertain significance Familial cancer of breast 2023-06-06 criteria provided, single submitter clinical testing a variant of uncertain significance was detected in the ATM gene (c.2250+4G>A).The c.2250+4G>A intronic variant results from a G to A substitution 4 nucleotides after coding exon 13 in the ATM gene. This variant does not have a gnomAD exomes entry. ClinVar contains an entry for this variant (Variation ID: 628647) with 2 submissions, all of which describe it as of uncertain significance. This nucleotide position is not well conserved (PhyloP100way=0.007). In silico splice site analysis predicts that this alteration will not have any significant effect on splicing.In-silico predictions show benign computational verdict based on CADD , DANN , dbscSNV and Polyphen2 . Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.Therefore, it has been classified as a Variant of Uncertain Significance.
Myriad Genetics, Inc. RCV003237352 SCV005081927 likely benign Familial cancer of breast 2024-05-07 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.