ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9551T>C (p.Leu3184Pro)

gnomAD frequency: 0.00001  dbSNP: rs863224601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000197260 SCV000254226 uncertain significance Hereditary breast ovarian cancer syndrome 2015-01-21 criteria provided, single submitter clinical testing 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 variant has not been published in the literature and is not present in population databases. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This sequence change replaces leucine with proline at codon 3184 of the BRCA2 protein (p.Leu3184Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline.
Ambry Genetics RCV000561685 SCV000661334 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-12 criteria provided, single submitter clinical testing The p.L3184P variant (also known as c.9551T>C), located in coding exon 25 of the BRCA2 gene, results from a T to C substitution at nucleotide position 9551. The leucine at codon 3184 is replaced by proline, an amino acid with similar properties. This variant was similar to wildtype in a homology-directed DNA repair (HDR) assay (Ambry internal data). This amino acid position is highly conserved in available vertebrate species. Internal structural analysis indicates that this variant may destabilize the local structure (Ambry internal data). Since supporting evidence is conflicting at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000561685 SCV000684071 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-02 criteria provided, single submitter clinical testing

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