ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter)

dbSNP: rs1555618727
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576446 SCV000677871 likely pathogenic Fanconi anemia complementation group J; Ovarian neoplasm 2017-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021864 SCV001183533 pathogenic Hereditary cancer-predisposing syndrome 2018-11-20 criteria provided, single submitter clinical testing The p.K14* pathogenic mutation (also known as c.40A>T), located in coding exon 1 of the BRIP1 gene, results from an A to T substitution at nucleotide position 40. This changes the amino acid from a lysine to a stop codon within coding exon 1. 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. RCV003316749 SCV004019323 pathogenic Familial cancer of breast 2023-02-27 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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