ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.213-15A>G (rs886040903)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000774990 SCV000909083 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-06 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258182 SCV000325256 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000521647 SCV000617455 likely pathogenic not provided 2017-06-08 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.213-15A>G or IVS4-15A>G and consists of an A>G nucleotidesubstitution at the -15 position of intron 4 of the BRCA1 gene. This variant, previously published as BRCA1 332-15A>Gusing alternate nomenclature, has been reported in at least one individual with a family history of breast and ovariancancer (Reitsma 2013). While in silico splicing models are uninformative, transcript analysis reported by Houdayer etal. (2012) revealed BRCA1 c.213-15A>G to use a cryptic site 59 nucleotides upstream of the natural splice site and tohave a severe impact on splicing. BRCA1 c.213-15A>G was not observed in large population cohorts (Lek 2016, The1000 Genomes Consortium 2015, NHLBI Exome Sequencing Project). The adenine (A) nucleotide that is altered is notconserved. Based on the currently available information, we consider BRCA1 c.213-15A>G to be a likely pathogenicvariant.

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