ClinVar Miner

Submissions for variant NC_000017.11:g.61716043_61716045delinsCAAAT

dbSNP: rs1555580957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527183 SCV000633510 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2022-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr800Ilefs*2) 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003316698 SCV004017979 pathogenic Familial cancer of breast 2023-04-13 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003316698 SCV004214710 likely pathogenic Familial cancer of breast 2023-10-05 criteria provided, single submitter clinical testing

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