ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1662_1663del (p.Gln554fs)

dbSNP: rs1603334758
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012636 SCV001173114 pathogenic Hereditary cancer-predisposing syndrome 2018-01-04 criteria provided, single submitter clinical testing The c.1662_1663delGA pathogenic mutation, located in coding exon 11 of the BRIP1 gene, results from a deletion of two nucleotides at nucleotide positions 1662 to 1663, causing a translational frameshift with a predicted alternate stop codon (p.Q554Hfs*9). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003336235 SCV004043595 pathogenic Familial cancer of breast 2023-06-05 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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