ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4986+4A>G (rs80358087)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235747 SCV000293462 likely pathogenic not provided 2018-02-21 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.4986+4A>G or IVS15+4A>G and consists of an A>G nucleotide substitution at the +4 position of intron 15 of the BRCA1 gene. Using alternate nomenclature, this variant has been previously published as BRCA1 c.5105+4A>G and IVS16+4A>G. This variant was observed in a family with a strong history of breast cancer and was shown by an in vitro RT-PCR assay to cause an incorporation of 65 additional bases on the 5' end of the intron (Wappenschmidt 2012). In-silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant was not observed in large population cohorts (Lek 2016). Based on currently available evidence, we consider BRCA1 c.4986+4A>G to be a likely pathogenic variant.

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