Total submissions: 17
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000113328 | SCV000578870 | 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/). |
Invitae | RCV001085696 | SCV000072476 | benign | Hereditary breast ovarian cancer syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000589392 | SCV000167368 | likely benign | not provided | 2021-04-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 15307796, 25710373, 20858050, 8665505) |
Ambry Genetics | RCV000131764 | SCV000186808 | likely benign | Hereditary cancer-predisposing syndrome | 2014-08-11 | 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 | RCV000113328 | SCV000220860 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2014-11-07 | criteria provided, single submitter | literature only | |
Laboratory for Molecular Medicine, |
RCV000123975 | SCV000538479 | likely benign | not specified | 2016-12-02 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant has not been reported in affected individuals. It is present in HGMD (classified as DM) in a publication describing a method for detecting variants. This variant is classified in ClinVar with 1 star as Benign or Likely Benign by 5 submitters: BIC, Invitae, Ambry, GeneDx, Counsyl. It is present in ExAC with a Max MAF of 0.009% (6 European alleles) and in gnomAD with a MaxMAF of 0.01% (14 European alleles). |
Color Diagnostics, |
RCV000131764 | SCV000683641 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000123975 | SCV000694792 | likely benign | not specified | 2021-07-18 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000589392 | SCV000805711 | likely benign | not provided | 2017-02-23 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000589392 | SCV000889058 | likely benign | not provided | 2023-01-09 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000123975 | SCV001157015 | likely benign | not specified | 2018-10-16 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798234 | SCV002043077 | likely benign | Breast and/or ovarian cancer | 2022-08-15 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000131764 | SCV002533888 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-15 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002496689 | SCV002805379 | likely benign | Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3 | 2021-12-08 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000123975 | SCV004243033 | likely benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000113328 | SCV000146463 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001353398 | SCV000591917 | benign | Malignant tumor of breast | no assertion criteria provided | clinical testing | The p.Gly1552Gly variant has been presented 7 times in the UMD and two times in the BIC database as having no clinical significance. It is listed in dbSNP database (ID#: rs41293491) coming from a “clinical source’ with an average heterozygosity of 0.000+/-0.015, therefore representing a rare variant in the population. This variant is not expected to have clinical significance because it does not alter an amino acid residue, and is not located near a splice junction. In summary, 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 Benign. |