ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.920A>G (p.Asn307Ser)

dbSNP: rs1583345602
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814957 SCV000955396 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-07-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 PMS2 protein function. ClinVar contains an entry for this variant (Variation ID: 658186). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 307 of the PMS2 protein (p.Asn307Ser).
Ambry Genetics RCV001019002 SCV001180303 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-20 criteria provided, single submitter clinical testing The p.N307S variant (also known as c.920A>G), located in coding exon 9 of the PMS2 gene, results from an A to G substitution at nucleotide position 920. The asparagine at codon 307 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly 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.
Sema4, Sema4 RCV001019002 SCV002530404 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-02 criteria provided, single submitter curation

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