Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001084578 | SCV000073618 | benign | Hereditary breast ovarian cancer syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000130464 | SCV000185329 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-22 | 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. |
Gene |
RCV000590249 | SCV000210479 | likely benign | not provided | 2021-02-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26757417, 23108138, 19043619, 28277317, 14973102, 18607349, 9579822, 24323938, 22486713, 18627636, 18779604, 26221963, 11251181, 28222693, 29394989, 26848529, 29681614, 24817641, 31131967, 29884841, 31825140) |
Color Diagnostics, |
RCV000130464 | SCV000683993 | benign | Hereditary cancer-predisposing syndrome | 2016-03-23 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590249 | SCV000695176 | likely benign | not provided | 2016-05-02 | criteria provided, single submitter | clinical testing | Variant summary: The c.8702G>A variant affects a conserved nucleotide, resulting in amino acid change from Gly to Asp. 4/4 in-silico tools predict damaging outcome for this variant. This variant is found in 14/121646 control chromosomes from ExAC at a frequency of 0.0001151. It was predominantly reported in East Asian subpopulation with an allele frequency of 0.0016 which is about 2.15 times higher than the maximum expected allele frequency of a pathogenic variant in this gene suggesting that it is likely to be a polymorphism in East Asians. The variant has been reported in several breast and/or ovarian cancer patients/families, mainly of East Asian origin, without strong evidence for pathogenicity. In one patient with thyroid and breast cancer, a truncating mutation PTEN c. 590delA was also found, possibly suggesting for an alternative disease mechanism. In addition, it was also found in once in each of benign breast cancer patient and healthy control cohorts, possibly suggesting a benign outcome. Functional studies (HDR, cell viability and drug sensitivity assays) shows neutral outcome for this variant. Three out of five clinical labs have also classified this variant as likely benign/benign (other two as uncertain significance). Taken together, this variant has currently been classified as likely benign. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000590249 | SCV001133946 | benign | not provided | 2018-09-07 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000031763 | SCV001139225 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001818200 | SCV002068243 | likely benign | not specified | 2019-01-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004532461 | SCV004710855 | likely benign | BRCA2-related disorder | 2022-01-25 | 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). |
All of Us Research Program, |
RCV000031763 | SCV004846059 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2023-06-08 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000031763 | SCV000054371 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2010-01-22 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000031763 | SCV000147441 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2000-06-12 | flagged submission | clinical testing | |
Counsyl | RCV000031763 | SCV000487777 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-11-25 | flagged submission | clinical testing | |
Center for Precision Medicine, |
RCV002250495 | SCV002520845 | likely benign | Familial cancer of breast | no assertion criteria provided | literature only | ||
Laboratory of Molecular Epidemiology of Birth Defects, |
RCV003153312 | SCV003843612 | likely pathogenic | Ovarian cancer | 2022-01-01 | flagged submission | clinical testing |