Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000584647 | SCV000691059 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000699503 | SCV000828216 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-02-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000584647 | SCV001176428 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-12-23 | criteria provided, single submitter | clinical testing | The c.24-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 2 in the PMS2 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. RNA studies have demonstrated that this alteration results in an incomplete splice defect involving exons excluded from naturally occurring transcripts; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
German Consortium for Hereditary Breast and Ovarian Cancer, |
RCV003483681 | SCV004231815 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-17 | criteria provided, single submitter | curation | . According to the ACMG standard criteria we chose these criteria: PM2 (supporting pathogenic): not in gnomAD, BP4 (supporting benign): spliceAI:PMS2:0.0, BS3 (strong benign): Own splicing analysis showed no effect on splicing |