Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000131535 | SCV000186530 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-10-18 | criteria provided, single submitter | clinical testing | Insufficient or conflicting evidence |
Gene |
RCV000120399 | SCV000210818 | likely benign | not specified | 2017-10-20 | 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. |
Invitae | RCV001083712 | SCV000219093 | benign | Familial cancer of breast; Fanconi anemia, complementation group J | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000120399 | SCV000593773 | uncertain significance | not specified | 2016-06-08 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000588835 | SCV000699695 | likely benign | not provided | 2016-12-09 | criteria provided, single submitter | clinical testing | Variant summary: The BRIP1 c.2440C>T (p.Arg814Cys) variant located in the P-loop containing nucleoside triphosphate hydrolase and ATP-dependent helicase, C-terminal domains (via InterPro) causes a missense change involving a conserved nucleotide, which 4/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a damaging outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 58/120652 (1/2080), predominantly in the East Asian cohort, 47/8492 (1/180), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic BRIP1 variant of 1/16000. Therefore, suggesting the variant is a common polymorphism found in population(s) of East Asian origin. The variant of interest has been reported in multiple affected individuals via publications as a germline and somatic mutation. In addition multiple clinical diagnostic laboratories cite the variant with conflicting classifications of "uncertain significance" or "likely benign." Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as "Likely Benign." |
Counsyl | RCV000662392 | SCV000784805 | uncertain significance | Fanconi anemia, complementation group J; Neoplasm of ovary | 2016-12-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000131535 | SCV000821960 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000709540 | SCV000839367 | uncertain significance | Fanconi anemia, complementation group J | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Color | RCV000131535 | SCV000902641 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-27 | criteria provided, single submitter | clinical testing | |
Cancer Genomics Group, |
RCV001030535 | SCV001193531 | uncertain significance | Hereditary breast and ovarian cancer syndrome | 2019-05-01 | criteria provided, single submitter | research | |
ITMI | RCV000120399 | SCV000084551 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Leiden Open Variation Database | RCV000588835 | SCV001364475 | uncertain significance | not provided | 2019-08-13 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa. |