Total submissions: 25
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111927 | SCV000578175 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 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 | RCV000047951 | SCV000075964 | benign | Hereditary breast ovarian cancer syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000111927 | SCV000154016 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2014-01-25 | criteria provided, single submitter | literature only | |
Ambry Genetics | RCV000162536 | SCV000212937 | likely benign | Hereditary cancer-predisposing syndrome | 2014-06-25 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000768646 | SCV000219222 | benign | Breast and/or ovarian cancer | 2017-01-18 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000284446 | SCV000333833 | likely benign | not specified | 2015-08-12 | criteria provided, single submitter | clinical testing | |
Cancer Genetics and Genomics Laboratory, |
RCV000284446 | SCV000586888 | benign | not specified | 2017-04-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162536 | SCV000683059 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-27 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000111927 | SCV000744647 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-06-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000284446 | SCV000806925 | benign | not specified | 2017-01-30 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000111927 | SCV001140570 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000111927 | SCV001280878 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2019-08-14 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
ARUP Laboratories, |
RCV001689608 | SCV001474355 | benign | not provided | 2022-07-08 | criteria provided, single submitter | clinical testing | |
National Health Laboratory Service, |
RCV000047951 | SCV002025971 | benign | Hereditary breast ovarian cancer syndrome | 2021-11-16 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000284446 | SCV002070411 | benign | not specified | 2018-06-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001689608 | SCV002585648 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | BRCA1: BP4, BP7 |
KCCC/NGS Laboratory, |
RCV000111927 | SCV004016752 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000284446 | SCV004026785 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000111927 | SCV000144529 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2010-12-17 | no assertion criteria provided | clinical testing | |
Sharing Clinical Reports Project |
RCV000111927 | SCV000189335 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2011-03-02 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000111927 | SCV000591408 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion criteria provided | clinical testing | The p.Gly911Gly variant has been identified in 12 out of 8424 proband chromosomes (frequency 0.001) in individuals with sporadic and familial breast and ovarian cancer phenotype; and was absent in 48 control chromosomes included in these studies (Judkins 2005, van der Hout 2006, Uhrhammer 2008, Caux-Moncoutier 2009, Borg 2010). It is listed in dbSNP database” (ID#: rs1800740) while no information was provided, however, in the exome server it is found in 5/8595 (frequency 0.0006) in European and 1/4405 (frequency 0.0003) in African populations, suggesting that this is a benign variant. In addition, in the UMD database, this variant has been identified in 2 (out of 43) individuals with breast or ovarian cancers, where a second pathogenic BRCA1 or BRCA2 mutation was also detected, further suggesting that this is a benign variant. In addition, it was identified by our laboratory in one individual with a second pathogenic variant. This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located near a splice junction. In addition, in-silico or computational prediction software (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predicts no change in the splice site prediction score. In summary, based on above information this variant is classified as Benign | |
True Health Diagnostics | RCV000162536 | SCV000886668 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-28 | no assertion criteria provided | clinical testing | |
Clinical Genetics Laboratory, |
RCV001689608 | SCV001906299 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001689608 | SCV001960138 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Institute for Biomarker Research, |
RCV000047951 | SCV002050293 | benign | Hereditary breast ovarian cancer syndrome | 2021-12-17 | no assertion criteria provided | clinical testing |