ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4485-10_4491del

dbSNP: rs2154024242
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354416 SCV001549029 pathogenic Malignant tumor of breast no assertion criteria provided clinical testing The BRCA1 c.4485-10_4491del variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, LOVD 3.0, or UMD-LSDB databases. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.4485-10_4491del variant is located in the 3’ splice region and affects -1 to -10 positions which are part of the splicing consensus sequence and variants involving these positions affect splicing. In addition, 4 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing and show complete loss or deletion of the consensus splice acceptor site. The c.4485-10_4491del variant is predicted to cause a frameshift but could not be verified. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic.

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