ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.-19-17_-19-13delinsAA (rs879254184)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235381 SCV000293745 uncertain significance not specified 2015-12-21 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.-19-17_-19-13delTTTCTinsAA or IVS1-17_IVS1-13delTTTCTinsAA consists of a deletion of five nucleotides and insertion of two nucleotides at the -17 to -13 position in intron 1 of the BRCA1 gene. The normal sequence with the bases that are deleted in braces and those that are inserted in brackets is TGTT[TTTCT][AA]AATG. Multiple in silico models predict this variant to destroy the nearby natural splice acceptor site, and to possibly cause abnormal gene splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This intronic variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The first two nucleotides that are deleted are conserved; the last three are not. Based on the currently available information, we consider this variant to have uncertain significance.

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