ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.93+1G>A (rs587782047)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546192 SCV000633520 likely pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2017-09-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the BRIP1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRIP1-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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