Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111655 | SCV001161488 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2019-06-18 | reviewed by expert panel | curation | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000273 |
Invitae | RCV000225759 | SCV000075555 | benign | Hereditary breast ovarian cancer syndrome | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000586975 | SCV000209930 | likely benign | not provided | 2019-12-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 12491499, 24728327, 15235020, 26535628, 25801821, 20167696, 27616075, 29297111, 30287823, 31131967, 31825140, 33087888) |
Ambry Genetics | RCV000162708 | SCV000213169 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-01 | 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. |
Counsyl | RCV000111655 | SCV000488835 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-06-28 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000586975 | SCV000600259 | likely benign | not provided | 2020-02-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586975 | SCV000698878 | benign | not provided | 2016-03-17 | criteria provided, single submitter | clinical testing | Variant Summary: The variant of interest causes a misense change involving a non-conserved nucleotide with 3/4 in silico programs (SNPs&GO not captured here due to low reliability index) predict a "benign" outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 11/120938 (1/10993), predominantly in the South Asian cohort, 9/16496 (1/1832), which does not exceed the predicted maximum expected allele frequency for a pathogenic BRCA1 variant of 1/1000. The variant of interest has been reported in multiple affected individuals via publications and databases, which indicate the variant to co-occur with pathogenic BRCA1 variants, c.1687C>T (p.Gln563X - classified as pathogenic by LCA) and c.5030_5033delCTAA (p.Thr1677IlefsX2 - classified as pathogenic by LCA) and 3 different BRCA2 variants, c.2808_2811delACAA(p.Lys936_Gln937?fs) c.6037A>T (p.Lys2013Ter) and c.3975_3978dupTGCT (p.Ala1327fsX4), indicating a benign role. In addition, multiple reputable clinical laboratories cite the variant as "likely benign." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign. |
Color Diagnostics, |
RCV000162708 | SCV000910914 | benign | Hereditary cancer-predisposing syndrome | 2016-11-14 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170824 | SCV001333442 | likely benign | Breast and/or ovarian cancer | 2023-06-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162708 | SCV002538043 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-27 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000120282 | SCV002551033 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915015 | SCV004735235 | likely benign | BRCA1-related condition | 2020-09-09 | 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). |
ITMI | RCV000120282 | SCV000084434 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Breast Cancer Information Core |
RCV000111655 | SCV000144144 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing |