Total submissions: 25
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000031539 | SCV000244456 | benign | Breast-ovarian cancer, familial 2 | 2015-08-10 | 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 = 0.000000153 |
Invitae | RCV000044634 | SCV000072647 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000031539 | SCV000154060 | likely benign | Breast-ovarian cancer, familial 2 | 2014-01-02 | criteria provided, single submitter | literature only | |
Gene |
RCV000168575 | SCV000167372 | benign | not specified | 2014-03-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV000162664 | SCV000213106 | benign | Hereditary cancer-predisposing syndrome | 2014-11-19 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000768599 | SCV000219350 | benign | Breast and/or ovarian cancer | 2017-08-22 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000031539 | SCV000383714 | uncertain significance | Breast-ovarian cancer, familial 2 | 2018-03-06 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Integrated Genetics/Laboratory Corporation of America | RCV000044634 | SCV000494421 | benign | Hereditary breast and ovarian cancer syndrome | 2015-04-09 | criteria provided, single submitter | clinical testing | Variant Summary: The variant of interst causes a missense change in a non-conserved position with 3/5 in silico programs predicting a "benign" outcome. The variant of interest has an observed allele frequency of 41/121940 (1/2976) including 1 homozygous occurrence. Functional analysis through the use of allelic imbalance implicated the variant does not affect splicing (Caux-Moncoutier_2009). The variant of interest has been reported in multiple affected individuals, however, it has shown lack of co-segregation within one family with an affected individual not carrying the variant of interest (Carvallone_2010). In addition, the variant of interest was reported to co-occur with another potentially pathogenic BRCA2 variant, c.759_759delinsACA and a potentially pathogenic BRCA1 variant, c.212+3A>G. Furthermore, multiple reputable databases/laboratories (ARUP, UMD, SCRP, GeneDx and Ambry Genetics) and publications (Lindor_2012, Easton_2007, and Cunningham_2014) classify the variant as "likely benign/benign/polymorphism." Therefore, taken all together, the variant of interest is classified as benign. |
Laboratory for Molecular Medicine, |
RCV000168575 | SCV000538487 | uncertain significance | not specified | 2016-03-28 | 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: Clinvar: 7 labs classify as LB/Ben; ExAC: 0.1% (6/11554) Latino chromosomes |
Fulgent Genetics, |
RCV000031539 | SCV000575746 | likely benign | Breast-ovarian cancer, familial 2 | 2015-12-08 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Molecular Medicine, |
RCV000168575 | SCV000588100 | benign | not specified | 2017-04-20 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000168575 | SCV000591959 | benign | not specified | 2014-01-16 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000168575 | SCV000602747 | benign | not specified | 2018-07-18 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000162664 | SCV000683694 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-10 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000031539 | SCV000743306 | likely benign | Breast-ovarian cancer, familial 2 | 2017-07-28 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000031539 | SCV000744467 | benign | Breast-ovarian cancer, familial 2 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000034445 | SCV000805720 | likely benign | not provided | 2017-01-10 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000044634 | SCV000838814 | likely benign | Hereditary breast and ovarian cancer syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000031539 | SCV001139112 | likely benign | Breast-ovarian cancer, familial 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001028067 | SCV001270127 | uncertain significance | Fanconi anemia, complementation group D1 | 2018-03-06 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Biesecker Lab/Clinical Genomics Section, |
RCV000034445 | SCV000043212 | probably not pathogenic | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Likely benign. |
Sharing Clinical Reports Project |
RCV000031539 | SCV000054144 | benign | Breast-ovarian cancer, familial 2 | 2006-03-16 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000031539 | SCV000146599 | not provided | Breast-ovarian cancer, familial 2 | no assertion provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000031539 | SCV000733266 | benign | Breast-ovarian cancer, familial 2 | no assertion criteria provided | clinical testing | ||
Biochemical Molecular Genetic Laboratory, |
RCV001028067 | SCV001190846 | benign | Fanconi anemia, complementation group D1 | 2020-02-05 | no assertion criteria provided | clinical testing |