ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7927+13dup (rs587781324)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129065 SCV000183766 likely benign Hereditary cancer-predisposing syndrome 2012-12-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000129065 SCV000209579 benign Hereditary cancer-predisposing syndrome 2014-10-09 criteria provided, single submitter clinical testing The variant is found in BR-OV-HEREDIC,HEREDICANCER panel(s).
Invitae RCV001080944 SCV000252600 benign Ataxia-telangiectasia syndrome 2020-11-21 criteria provided, single submitter clinical testing
Color Health, Inc RCV000129065 SCV000682443 likely benign Hereditary cancer-predisposing syndrome 2016-02-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679144 SCV000805622 likely benign not provided 2016-12-30 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001354994 SCV001549742 uncertain significance Familial ovarian cancer no assertion criteria provided clinical testing The ATM c.7927+13dup variant was not identified in the literature nor was it identified in the LOVD 3.0 database. The variant was identified in dbSNP (ID: rs587781324) as "With other allele", ClinVar (classified as benign by Invitae and GeneDx; and as likely benign by Ambry Genetics, Color and Prevention Genetics). The variant was not identified in 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 1 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) 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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