ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5332+2T>G (rs80358182)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000505750 SCV000210215 pathogenic not provided 2014-08-20 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.5332+2 T>G or IVS20+2 T>G and consists of a T>G nucleotide substitution at the +2 position of intron 20 of the BRCA1 gene. The variant destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has not, to our knowledge, been published in the literature. Based on current evidence, we consider this variant to be pathogenic.

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