Total submissions: 17
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000045881 | SCV000073894 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000074565 | SCV000108650 | likely benign | not specified | 2017-06-21 | 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 | RCV000131239 | SCV000186196 | benign | Hereditary cancer-predisposing syndrome | 2015-03-01 | 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. |
Counsyl | RCV000031841 | SCV000220806 | likely benign | Breast-ovarian cancer, familial 2 | 2014-10-16 | criteria provided, single submitter | literature only | |
Soonchunhyang University Bucheon Hospital, |
RCV000031841 | SCV000267232 | uncertain significance | Breast-ovarian cancer, familial 2 | 2016-03-18 | criteria provided, single submitter | reference population | |
A. |
RCV000414578 | SCV000492490 | uncertain significance | Breast neoplasm | criteria provided, single submitter | research | ||
Laboratory for Molecular Medicine, |
RCV000074565 | SCV000538478 | likely benign | not specified | 2016-10-27 | 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 been reported in 11 patients with breast cancer (7 of whom were Asian), 1 patient with hepatocellular carcinoma, and 1 patient with no history of cancer. It is present in ExAC with a Max MAF of 0.35%. At this frequency a pathogenic role is unlikely. It is classified as LB/B by 5 submitters in ClinVar with 1 star (Invitae, GeneDx, Ambry, Counsyl, SCRP) and as VUS by BIC and Biesecker lab. |
Department of Pathology and Laboratory Medicine, |
RCV000074565 | SCV000591722 | uncertain significance | not specified | 2013-11-27 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000131239 | SCV000684083 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-03 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000034472 | SCV000695260 | likely benign | not provided | 2017-02-09 | criteria provided, single submitter | clinical testing | Variant summary: The BRCA2 c.964A>C (p.Lys322Gln) variant involves the alteration of a conserved nucleotide. 3/5 in silico tools predict a damaging outcome for this variant. This variant was found in 30/123662 control chromosomes, predominantly in the East Asian cohort, 29/10878 (0.0027), which does exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). Therefore, suggesting that the variant is a polymorphism found most frequently in population(s) of East Asian origin. In addition, the variant has been reported in 2 unaffected individuals (Carnery_2010), showing evidence for lack of co-segregation. Also multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign. |
Mendelics | RCV000045881 | SCV000838749 | likely benign | Hereditary breast and ovarian cancer syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000031841 | SCV001138983 | likely benign | Breast-ovarian cancer, familial 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001109314 | SCV001266637 | benign | Fanconi anemia, complementation group D1 | 2017-04-30 | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Clinical Services Laboratory, |
RCV000031841 | SCV001269209 | benign | Breast-ovarian cancer, familial 2 | 2017-04-30 | 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 rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Biesecker Lab/Clinical Genomics Section, |
RCV000034472 | SCV000043193 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |
Sharing Clinical Reports Project |
RCV000031841 | SCV000054449 | benign | Breast-ovarian cancer, familial 2 | 2011-03-10 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000031841 | SCV000145797 | uncertain significance | Breast-ovarian cancer, familial 2 | 2002-05-29 | no assertion criteria provided | clinical testing |