Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000636074 | SCV000757506 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2024-04-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly35*) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 530296). For these reasons, this variant has been classified as Pathogenic. |
| Color Diagnostics, |
RCV001182086 | SCV001347436 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-15 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 3 of the BRIP1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRIP1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
| MGZ Medical Genetics Center | RCV002289938 | SCV002579654 | likely pathogenic | Familial cancer of breast | 2021-11-25 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001182086 | SCV002698736 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-07-26 | criteria provided, single submitter | clinical testing | The p.G35* pathogenic mutation (also known as c.103G>T), located in coding exon 2 of the BRIP1 gene, results from a G to T substitution at nucleotide position 103. This changes the amino acid from a glycine to a stop codon within coding exon 2. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Myriad Genetics, |
RCV002289938 | SCV004044096 | pathogenic | Familial cancer of breast | 2023-05-30 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |
| Baylor Genetics | RCV002289938 | SCV004211326 | likely pathogenic | Familial cancer of breast | 2022-11-04 | criteria provided, single submitter | clinical testing |