ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1904-12_1904-10delinsGGG

dbSNP: rs2105990964
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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 RCV001355935 SCV001550965 uncertain significance Malignant tumor of breast no assertion criteria provided clinical testing The BARD1 c.1904-12_1904-10delinsGGG variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, Cosmic, or Zhejiang University 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.1904-12_1904-10delinsGGG variant is located in the 3' splice region but does not affect the invariant -1 and -2 positions. However, positions -3 and -5 to -12 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. In addition, 5 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing. 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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