ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.205+1del (rs1057517648)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412391 SCV000490101 likely pathogenic Fanconi anemia, complementation group J 2016-11-09 criteria provided, single submitter clinical testing
Counsyl RCV000410041 SCV000490102 likely pathogenic Neoplasm of ovary 2016-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563164 SCV000661489 pathogenic Hereditary cancer-predisposing syndrome 2016-12-14 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)
Mendelics RCV000412391 SCV000839404 likely pathogenic Fanconi anemia, complementation group J 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000563164 SCV000910307 likely pathogenic Hereditary cancer-predisposing syndrome 2020-02-26 criteria provided, single submitter clinical testing
Mendelics RCV000990042 SCV001140806 likely pathogenic Familial cancer of breast 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001048942 SCV001212972 likely pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2019-07-26 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 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). This variant has not been reported in the literature in individuals with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 372101). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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