ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.450T>G (p.His150Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002649989 SCV002973631 uncertain significance Hereditary breast ovarian cancer syndrome 2022-02-02 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 150 of the BRCA2 protein (p.His150Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA2 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003357971 SCV004052501 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-23 criteria provided, single submitter clinical testing The p.H150Q variant (also known as c.450T>G), located in coding exon 4 of the BRCA2 gene, results from a T to G substitution at nucleotide position 450. The histidine at codon 150 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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.

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