Submissions for variant NM_000051.4(ATM):c.3403-14_3403-13insG

dbSNP: rs1555091097

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001355970	SCV001551008	uncertain significance	Familial ovarian cancer		no assertion criteria provided	clinical testing	The ATM c.3403-14_3403-13insG variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, COGR, Cosmic, MutDB, LOVD 3.0, 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 was identified by our laboratory in this individual with a co-occurring pathogenic BRCA1 variant (c.5062_5064delGTT, p.Val1688del) increasing the likelihood this variant does not have clinical significance. The variant occurs outside of the splicing consensus sequence and 5 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing. However, this information is not predictive enough to assume 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.