Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001019486 | SCV001180850 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV001314773 | SCV001505320 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2021-09-03 | 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 missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 37711). This missense change has been observed in individual(s) with breast cancer (PMID: 28439188). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 319 of the BRCA1 protein (p.Asn319Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. |
University of Washington Department of Laboratory Medicine, |
RCV001019486 | SCV003846266 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-23 | criteria provided, single submitter | curation | Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). |
Sharing Clinical Reports Project |
RCV000031292 | SCV000053897 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2011-05-06 | no assertion criteria provided | clinical testing |