Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Cancer Variant Interpretation Group UK, |
RCV001269393 | SCV001449163 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2020-06-01 | criteria provided, single submitter | clinical testing | Data included in classification: The variant is absent from GNOMAD (PM2_sup). This variant is predicted deleterious on REVEL 0.869 (PP3_sup). The variant is non-functional on saturation genome editing in haploid BRCA1 cellular model (Findlay et al 2018, PMID: 30209399) (PS3_Strong). Classification:likely pahtogneic (exponent score: 6) Data not included in classification: Multiple other insilico tools predict as deleterious. At least 3 strong UK families: UK family #1 Maternal and paternal family history of cancer, Manchester score of >20; UK family #2 Proband with breast cancer at 48. Breast cancer in proband’s mother at 40 and 2 maternal aunts at 28 and 47; UK family #3 Proband with triple negative breast cancer at 53. |
| Genomics and Molecular Medicine Service, |
RCV005055120 | SCV005688985 | likely pathogenic | Inherited breast cancer and ovarian cancer | 2024-09-25 | criteria provided, single submitter | clinical testing | PS3,PM2_Supporting,PP3 |
| Department of Pathology and Laboratory Medicine, |
RCV000502014 | SCV000591564 | uncertain significance | Malignant tumor of breast | no assertion criteria provided | clinical testing | The BRCA1 p.Val1687Gly variant was not identified in the literature, nor was it identified in the dbSNP, NHLBI Exome Sequencing Project (Exome Variant Server), HGMD, LOVD, COSMIC, UMD, or BIC databases. The p.Val1687 residue is conserved across mammals and lower organisms, and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the p.Val1687Gly variant may impact the protein. However, this information is not predictive enough to assume pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of unknown significance. | |
| Brotman Baty Institute, |
RCV001077504 | SCV001243444 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |