Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000044547 | SCV000072560 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000074532 | SCV000108617 | likely benign | not specified | 2017-11-06 | 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 | RCV000129126 | SCV000183844 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-06 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Other data supporting benign classification |
Michigan Medical Genetics Laboratories, |
RCV000031522 | SCV000267730 | likely benign | Breast-ovarian cancer, familial 2 | 2016-04-21 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000031522 | SCV000487798 | uncertain significance | Breast-ovarian cancer, familial 2 | 2015-11-17 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000074532 | SCV000591687 | uncertain significance | not specified | 2015-01-19 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001281705 | SCV000600623 | uncertain significance | not provided | 2020-03-13 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000129126 | SCV000910662 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-16 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000031522 | SCV001266518 | uncertain significance | Breast-ovarian cancer, familial 2 | 2017-04-28 | 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Clinical Services Laboratory, |
RCV001111540 | SCV001269104 | uncertain significance | Fanconi anemia, complementation group D1 | 2017-04-28 | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Integrated Genetics/Laboratory Corporation of America | RCV000074532 | SCV001361906 | likely benign | not specified | 2019-03-13 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.506A>G (p.Lys169Arg) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 6.1e-05 in 246020 control chromosomes, predominantly at a frequency of 0.00013 within the Non-Finnish European subpopulation in the gnomAD database. This frequency is not higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast and Ovarian Cancer (6.1e-05 vs 0.00075), allowing no conclusion about variant significance. c.506A>G has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Davies_2018, Kote-Jarai_2011). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrences with other pathogenic variants have been reported (BRCA2 c.8537_8538delAG (p.Glu2846Glyfs), BRCA1 c.188T>A (p.Leu63X) in the BIC database), providing supporting evidence for a benign role. A functional study, Houdayer_2012, found the variant to not have an impact on splicing. Seven ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant four times as likely benign/benign and three times as uncertain significance. Based on the evidence outlined above, the variant was classified as likely benign. |
Sharing Clinical Reports Project |
RCV000031522 | SCV000054127 | benign | Breast-ovarian cancer, familial 2 | 2007-04-03 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000031522 | SCV000147027 | uncertain significance | Breast-ovarian cancer, familial 2 | 2002-05-29 | no assertion criteria provided | clinical testing |