Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495527 | SCV000578694 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/). |
Ambry Genetics | RCV000162542 | SCV000212946 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 | RCV000198690 | SCV000252996 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001281726 | SCV000522854 | likely benign | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 20104584) |
Baylor Genetics | RCV000459813 | SCV000541063 | benign | Familial cancer of breast | 2017-02-23 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001281726 | SCV000600490 | likely benign | not provided | 2020-04-03 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162542 | SCV000683454 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-06 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000435864 | SCV000916841 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003492661 | SCV004240295 | likely benign | Breast and/or ovarian cancer | 2022-09-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535055 | SCV004735990 | likely benign | BRCA2-related disorder | 2019-04-29 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Department of Pathology and Laboratory Medicine, |
RCV001353391 | SCV000591774 | likely benign | Malignant tumor of breast | no assertion criteria provided | clinical testing | The BRCA2 p.Pro606Pro variant was identified in the literature in an individual with breast cancer; however, control chromosomes from healthy individuals were not analyzed in this study (Borg 2010). The variant was also identified in dbSNP (ID: rs76844014) and in UMD (3X as an unclassified variant), but was not identified in the NHLBI Exome Sequencing Project (Exome Variant Server), HGMD, LOVD, COSMIC, or BIC databases. The variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site, and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as predicted benign. | |
Diagnostic Laboratory, |
RCV001281726 | SCV001741526 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001281726 | SCV001958017 | likely benign | not provided | no assertion criteria provided | clinical testing |