Total submissions: 22
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000113324 | SCV000244450 | 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 = 0.000000000166 |
Invitae | RCV000044446 | SCV000072459 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000113324 | SCV000154094 | benign | Breast-ovarian cancer, familial 2 | 2014-04-02 | criteria provided, single submitter | literature only | |
Gene |
RCV000160225 | SCV000210607 | likely benign | not specified | 2018-01-16 | 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 | RCV000162670 | SCV000213117 | 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. |
Pathway Genomics | RCV000113324 | SCV000223766 | likely benign | Breast-ovarian cancer, familial 2 | 2014-10-30 | criteria provided, single submitter | clinical testing | |
Michigan Medical Genetics Laboratories, |
RCV000113324 | SCV000267766 | likely benign | Breast-ovarian cancer, familial 2 | 2016-04-21 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000353459 | SCV000383702 | likely benign | Fanconi anemia, complementation group D1 | 2019-09-23 | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Clinical Services Laboratory, |
RCV000113324 | SCV000383703 | likely benign | Breast-ovarian cancer, familial 2 | 2019-09-23 | 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. |
Integrated Genetics/Laboratory Corporation of America | RCV000044446 | SCV000494387 | benign | Hereditary breast and ovarian cancer syndrome | 2015-04-06 | criteria provided, single submitter | clinical testing | Variant summary: The variant of interest causes a missense change in a conserved position with 4/4 in silico programs predicting a "deleterious" outcome (SNPs&Go not captured here due to low reliability index). The variant of interest has an observed allele frequency of 57/121370 (1/2127) in controls, which does not significantly exceed the maximum expect allele frequency for a pathogenic BRCA2 variant, 1/1333. However, the variant of interest has been found in cases to co-occur with multiple potential pathogenic BRCA2 (1 - c.5350_5351delAA (p.Asn1784HisfsX2) and 1 - c.8755_10257del (p.Gly2919fsX15)) and BRCA1 (1 - c.3226A>T (p.Arg1076X)) variants including internal LCA sample that co-occurred with a BRCA1 variant, c.3358_3359delGT (p.Val1120X scored DV). Although, functional studies show no impairment on exon splicing but conflicting evidence for a role in homologous recombination via recruitment of RAD51, however, this functional analysis has not been indepdently reproduced by other laboratories and their relevance to in-vivo mechanisms of pathogenicity have not been unequivocally established. Furthermore, multiple reputable databases (ARUP, UMD, BIC, SCRP, GeneDx and Ambry Genetics) and publications (Easton_2007 and Lindor_2012) classify the variant as likely benign/benign/neutral. . Therefore, taken together, the variant of interest is classified as benign. |
Laboratory for Molecular Medicine, |
RCV000160225 | SCV000538486 | 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: ExAC: 0.1%(42/66226) European; ClinVar: 8 B/LB |
Department of Pathology and Laboratory Medicine, |
RCV000160225 | SCV000591912 | likely benign | not specified | 2016-08-23 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001282554 | SCV000602833 | likely benign | none provided | 2020-02-03 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000162670 | SCV000683634 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-02 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000113324 | SCV000743301 | likely benign | Breast-ovarian cancer, familial 2 | 2015-06-15 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000113324 | SCV000744459 | benign | Breast-ovarian cancer, familial 2 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000113324 | SCV001139093 | likely benign | Breast-ovarian cancer, familial 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000113324 | SCV000054096 | benign | Breast-ovarian cancer, familial 2 | 2011-03-01 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000113324 | SCV000146453 | benign | Breast-ovarian cancer, familial 2 | 2002-05-29 | no assertion criteria provided | clinical testing | |
CSER _CC_NCGL, |
RCV000148413 | SCV000190112 | likely benign | Breast and/or ovarian cancer | 2014-06-01 | no assertion criteria provided | research | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000656605 | SCV000778676 | likely benign | not provided | 2015-10-07 | no assertion criteria provided | clinical testing | |
True Health Diagnostics | RCV000162670 | SCV000787932 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-11 | no assertion criteria provided | clinical testing |