Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000575007 | SCV000666199 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-01-02 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Insufficient or conflicting evidence |
| Color | RCV000575007 | SCV000684216 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-08-08 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000662681 | SCV000785390 | uncertain significance | Fanconi anemia, complementation group J; Neoplasm of ovary | 2017-08-02 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000462370 | SCV000547335 | uncertain significance | Familial cancer of breast; Fanconi anemia, complementation group J | 2018-09-05 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 17 of the BRIP1 gene. It does not directly change the encoded amino acid sequence of the BRIP1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs763222019, ExAC 0.002%). This variant has been observed in an individual affected with colorectal cancer (PMID: 28135145). ClinVar contains an entry for this variant (Variation ID: 407844). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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. |