ClinVar Miner

Submissions for variant NM_007297.4(BRCA1):c.5191+4del (rs1064795765)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482908 SCV000571883 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5332+4delA or IVS20+4delA and consists of a deletion of one nucleotide at the +4 position in intron 20 of the BRCA1 gene. Using alternative nomenclature, this variant would be defined as BRCA1 5451+4delA. The normal sequence, with the bases that are deleted in brackets, is Ggta[dela]gagc, where the capital letters are exonic and lowercase are intronic. Multiple in silico models predict this variant to damage the natural donor site for intron 20 and to possibly cause abnormal gene splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. BRCA1 c.5332+4delA was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Park et al. (2017) identified this variant in a high-risk breast cancer patient. The nucleotide that is deleted is conserved across species. Based on the currently available evidence, it is unclear whether BRCA1 c.5332+4delA is pathogenic or benign. We consider it to be a variant of uncertain significance.

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