Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166442 | SCV000217237 | likely benign | Hereditary cancer-predisposing syndrome | 2023-11-02 | 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. |
Labcorp Genetics |
RCV000472014 | SCV000547336 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2023-10-27 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 972 of the BRIP1 protein (p.Val972Ile). This variant is present in population databases (rs786203224, gnomAD 0.002%). This missense change has been observed in individual(s) with pancreatic cancer or breast cancer (PMID: 28767289, 35264596). ClinVar contains an entry for this variant (Variation ID: 186793). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Counsyl | RCV000662959 | SCV000785930 | uncertain significance | Fanconi anemia complementation group J; Ovarian neoplasm | 2018-01-15 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000166442 | SCV000909754 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-06 | criteria provided, single submitter | clinical testing | This missense variant replaces valine with isoleucine at codon 972 of the BRIP1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with pancreatic cancer (PMID: 28767289). This variant has also been identified in 2/250750 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Mendelics | RCV000989986 | SCV001140748 | uncertain significance | Familial cancer of breast | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002259316 | SCV002538707 | uncertain significance | not provided | 2022-06-10 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Identified in patients with pancreatic cancer (Shindo 2017, Hu 2020); This variant is associated with the following publications: (PMID: 11301010, 28767289, 32659497) |
Myriad Genetics, |
RCV000989986 | SCV004019368 | uncertain significance | Familial cancer of breast | 2023-02-28 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |