ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs)

dbSNP: rs1555607792
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662777 SCV000785584 likely pathogenic Fanconi anemia complementation group J; Ovarian neoplasm 2017-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001385761 SCV001585723 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2021-04-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 548798). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr311Phefs*26) 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).
Myriad Genetics, Inc. RCV003316784 SCV004019330 pathogenic Familial cancer of breast 2023-02-27 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Color Diagnostics, LLC DBA Color Health RCV003584699 SCV004362954 pathogenic Hereditary cancer-predisposing syndrome 2022-11-21 criteria provided, single submitter clinical testing This variant deletes 4 nucleotides in exon 8 of the BRIP1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with BRIP1-related disorders in the literature. 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.

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