ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5278-1G>T (rs80358099)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212198 SCV000210210 pathogenic not provided 2017-06-12 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5278-1G>T or IVS19-1G>T and consists of a G>T nucleotide substitution at the -1 position of intron 19 of the BRCA1 gene. Using alternate nomenclature, this variant has previously been published as BRCA1 5397-1G>T and IVS20-1G>T. This variant destroys a canonical splice acceptor 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 been demonstrated in vitro to create some transcripts which lack exon 20 and other which are missing the first 13 nucleotides of exon 20, both of which are deleterious to the protein (Wappenschmidt 2012). This variant has also been reported in families with breast and/or ovarian cancer (Dong 1998, Piexoto 2015). Based on the current evidence, we consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112598 SCV000326244 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Genologica Medica RCV000112598 SCV000577938 pathogenic Breast-ovarian cancer, familial 1 2017-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568672 SCV000660954 pathogenic Hereditary cancer-predisposing syndrome 2016-09-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Breast Cancer Information Core (BIC) (BRCA1) RCV000112598 SCV000145435 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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