ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8650T>C (p.Tyr2884His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003302179 SCV004005530 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-21 criteria provided, single submitter clinical testing The p.Y2884H variant (also known as c.8650T>C), located in coding exon 20 of the BRCA2 gene, results from a T to C substitution at nucleotide position 8650. The tyrosine at codon 2884 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV003302179 SCV004362762 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-29 criteria provided, single submitter clinical testing This missense variant replaces tyrosine with histidine at codon 2884 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with breast cancer (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA2_003846, Color internal data). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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