ClinVar Miner

Submissions for variant NM_007300.4(BRCA1):c.5137+3A>G (rs80358181)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255098 SCV000322278 likely pathogenic not provided 2018-04-30 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5074+3A>G or IVS16+3A>G and consists of an A>G nucleotide substitution at the +3 position of intron 16 of the BRCA1 gene. Also reported as BRCA1 5193+3A>G or IVS17+3A>G using alternate nomenclature, this variant has been observed in several families with breast and/or ovarian cancer (Menendez 2012, Nakamura 2015, Abdel-Razeq 2018). RNA studies have demonstrated that this variant produces aberrant mRNA transcripts, resulting in skipping of exon 16 or insertion of partial intron 16, both of which are predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (Menendez 2012). Additionally, in silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect. This variant was not observed in large population cohorts (Lek 2016). Based on the currently available information, we consider BRCA1 c.5074+3A>G to be a likely pathogenic variant.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112483 SCV000743382 pathogenic Breast-ovarian cancer, familial 1 2014-10-08 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112483 SCV000145291 uncertain significance Breast-ovarian cancer, familial 1 1999-12-30 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496317 SCV000587452 uncertain significance not specified 2014-01-31 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000112483 SCV000733601 pathogenic Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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