ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1312del (p.Leu438fs)

dbSNP: rs1064795413
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479813 SCV000571189 likely pathogenic not provided 2016-07-27 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRIP1 is denoted c.1312delC at the cDNA level and p.Leu438TyrfsX12 (L438YfsX12) at the protein level. The normal sequence, with the base that is deleted in braces, is ACCC[C]TACG. The deletion causes a frameshift which changes a Leucine to a Tyrosine at codon 438, and creates a premature stop codon at position 12 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.
Myriad Genetics, Inc. RCV003335367 SCV004043590 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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