ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.78dup (p.Ala27fs)

dbSNP: rs1555618709
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000663215 SCV000786401 likely pathogenic Fanconi anemia complementation group J; Ovarian neoplasm 2018-04-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000772710 SCV000905969 pathogenic Hereditary cancer-predisposing syndrome 2018-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772710 SCV001189407 pathogenic Hereditary cancer-predisposing syndrome 2018-02-06 criteria provided, single submitter clinical testing The c.78dupT pathogenic mutation, located in coding exon 1 of the BRIP1 gene, results from a duplication of T at nucleotide position 78, causing a translational frameshift with a predicted alternate stop codon (p.A27Cfs*42). 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.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001267999 SCV001446567 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001390437 SCV001592175 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2024-01-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala27Cysfs*42) 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 premature translational stop signal has been observed in individual(s) with ovarian cancer (PMID: 26315354). ClinVar contains an entry for this variant (Variation ID: 548896). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003316794 SCV004019331 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.

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