ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5275_5276delinsTG (p.Lys1759Trp) (rs786204116)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168064 SCV000218718 uncertain significance Hereditary breast and ovarian cancer syndrome 2014-10-18 criteria provided, single submitter clinical testing This sequence change replaces 2 nucleotides in exon 19 of BRCA1 mRNA (c.5275_5276delAAinsTG) which results in a missense change. The change replaces lysine with tryptophan at codon 1759 of the BRCA1 protein (p.Lys1759Trp) but otherwise preserves the integrity of the reading frame. The lysine residue is highly conserved. This sequence change has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "deleterious"; PolyPhen-2: probably damaging"; Align-GVGD: "Class C0"). This sequence change falls at the end of exon 19 and algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this sequence change may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel missense sequence change with uncertain impact on protein function and mRNA splicing. For these reasons, this change has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001023841 SCV001185771 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-04 criteria provided, single submitter clinical testing Insufficient evidence
Institute of Human Genetics, University of Leipzig Medical Center RCV001252973 SCV001428455 uncertain significance BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 2019-04-04 criteria provided, single submitter clinical testing

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