ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2365del (p.Ser789fs)

dbSNP: rs2154381368
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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 RCV001356559 SCV001551764 pathogenic Malignant tumor of breast no assertion criteria provided clinical testing The BRCA1 p.Ser789Alafs*3 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.2365del variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 789 and leads to a premature stop codon at position 791. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in BRCA1 associated cancers and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic.

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