Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112252 | SCV001161514 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2019-06-18 | 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 = 0.000573 |
Gene |
RCV000159886 | SCV000209968 | benign | not specified | 2014-09-17 | 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. |
Eurofins Ntd Llc |
RCV000724122 | SCV000225366 | uncertain significance | not provided | 2014-07-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080607 | SCV000289792 | benign | Hereditary breast ovarian cancer syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000112252 | SCV000489057 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-08-09 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000580105 | SCV000683150 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-30 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000724122 | SCV000887686 | likely benign | not provided | 2023-01-06 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000159886 | SCV001360562 | benign | not specified | 2020-11-12 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.4097-10G>A alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. Consistent with this, one study report that the variant had no apparent effect on mRNA splicing (Rodriguez-Balada_2016). The variant allele was found at a frequency of 1.6e-05 in 243770 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4097-10G>A has been reported in the literature in individuals undergoing genetic testing (Judkins_2005, Rodriguez-Balada_2016). However, these reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Five other ClinVar submitters including an expert panel (ENIGMA) classified the variant as likely benign or benign. Based on the evidence outlined above, the variant was classified as benign. |
ARUP Laboratories, |
RCV000724122 | SCV001477711 | likely benign | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000112252 | SCV000144973 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing |