ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1853_1854insG (p.Pro619fs) (rs587781985)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130385 SCV000185241 pathogenic Hereditary cancer-predisposing syndrome 2017-04-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000130385 SCV000905213 pathogenic Hereditary cancer-predisposing syndrome 2018-02-11 criteria provided, single submitter clinical testing
Counsyl RCV000412318 SCV000490035 likely pathogenic Fanconi anemia, complementation group J 2016-10-11 criteria provided, single submitter clinical testing
Counsyl RCV000409999 SCV000490036 likely pathogenic Neoplasm of ovary 2016-10-11 criteria provided, single submitter clinical testing
Counsyl RCV000576417 SCV000677802 likely pathogenic Fanconi anemia, complementation group J; Neoplasm of ovary 2016-10-11 criteria provided, single submitter clinical testing
GeneDx RCV000522061 SCV000618393 likely pathogenic not provided 2017-04-04 criteria provided, single submitter clinical testing This insertion of one nucleotide in BRIP1 is denoted c.1853_1854insG at the cDNA level and p.Pro619ThrfsX20 (P619TfsX20) at the protein level. The normal sequence, with the base that is inserted in brackets, is TATC[insG]ACCA. The insertion causes a frameshift which changes a Proline to a Threonine at codon 619, and creates a premature stop codon at position 20 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRIP1 c.1853_1854insG has been observed in an individual undergoing hereditary cancer multigene testing (LaDuca 2017). Based on the currently available information, we consider this insertion to be a likely pathogenic variant.
Invitae RCV000556616 SCV000633504 pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2018-05-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro619Thrfs*20) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 141753). Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). For these reasons, this variant has been classified as Pathogenic.

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