ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5406+4A>G (rs397509279)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256115 SCV000322145 likely pathogenic not provided 2015-07-23 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5406+4A>G or IVS21+4A>G and consists of a A>G nucleotide substitution at the +4 position of intron 21 of the BRCA1 gene. Multiple in silico models predict this variant to damage or destroy the nearby natural donor site, and to possibly cause abnormal gene splicing. This variant, published as IVS22+4A>G using alternate intron numbering, was identified in two relatives affected by ovarian cancer and in vitro analysis demonstrated exclusion of exon 22 (Wappenschmidt 2012). The adenine (A) nucleotide that is altered is conserved across species. Based on the currently available information, we consider BRCA1 c.5406+4A>G to be a likely pathogenic variant.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000256115 SCV000600419 pathogenic not provided 2016-09-27 criteria provided, single submitter clinical testing

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