Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001234612 | SCV001407266 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2019-08-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant has not been reported in the literature in individuals with BRIP1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Glu357*) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002411870 | SCV002719871 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-03-08 | criteria provided, single submitter | clinical testing | The p.E357* pathogenic mutation (also known as c.1069G>T), located in coding exon 7 of the BRIP1 gene, results from a G to T substitution at nucleotide position 1069. This changes the amino acid from a glutamic acid to a stop codon within coding exon 7. 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. |