ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.890_891insT (p.Lys297fs)

dbSNP: rs878855159
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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 RCV000232385 SCV000291062 pathogenic Familial cancer of breast 2017-05-08 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 7 of the BRIP1 mRNA (c.890_891insT), causing a frameshift at codon 297. This creates a premature translational stop signal (p.Lys297Asnfs*22) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001381186 SCV001579475 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2017-05-02 criteria provided, single submitter clinical testing While this particular variant has not been reported in the literature, loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This sequence change inserts 1 nucleotide in exon 7 of the BRIP1 mRNA (c.890_891insT), causing a frameshift at codon 297. This creates a premature translational stop signal (p.Lys297Asnfs*22) and is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV000232385 SCV004043581 pathogenic Familial cancer of breast 2023-06-01 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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