Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000238914 | SCV000578330 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.04; http://priors.hci.utah.edu/PRIORS/). |
Gene |
RCV000758844 | SCV000525823 | likely benign | not provided | 2018-06-07 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30209399) |
Labcorp Genetics |
RCV000530982 | SCV000636037 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000575634 | SCV000660976 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758844 | SCV000887727 | likely benign | not provided | 2017-11-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000575634 | SCV000904896 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-08 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002229697 | SCV002511775 | likely benign | not specified | 2022-04-18 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.5406A>C (p.Thr1802Thr) alters a non-conserved 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. The variant was absent in 251420 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5406A>C in individuals affected with Hereditary Breast and Ovarian Cancer Syndrome has been reported. An in vitro study that assessed the effect of the variant in a haploid human cell line whose survival is dependent on intact BRCA1 function, demonstrated no damaging effect of this variant (Findlay 2018). Six submitters, including an expert panel (ENIGMA), have provided clinical-significance assessments for this variant in ClinVar after 2014, and all classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign. |
Fulgent Genetics, |
RCV002494687 | SCV002804225 | likely benign | Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S | 2022-05-16 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000238914 | SCV004817552 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-03-04 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000238914 | SCV000297490 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2011-06-09 | no assertion criteria provided | clinical testing | |
Brotman Baty Institute, |
RCV000238914 | SCV001242710 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |