ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.314C>G (p.Ser105Ter)

dbSNP: rs1555617829
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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 RCV000571146 SCV000666267 pathogenic Hereditary cancer-predisposing syndrome 2017-08-16 criteria provided, single submitter clinical testing The p.S105* pathogenic mutation (also known as c.314C>G), located in coding exon 3 of the BRIP1 gene, results from a C to G substitution at nucleotide position 314. This changes the amino acid from a serine to a stop codon within coding exon 3. 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. RCV003335496 SCV004045116 pathogenic Familial cancer of breast 2023-05-30 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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