ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter) (rs1553619721)

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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 RCV000562658 SCV000660918 pathogenic Hereditary cancer-predisposing syndrome 2017-03-30 criteria provided, single submitter clinical testing The p.Q449* pathogenic mutation (also known as c.1345C>T), located in coding exon 5 of the BARD1 gene, results from a C to T substitution at nucleotide position 1345. This changes the amino acid from a glutamine to a stop codon within coding exon 5. 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.
Cancer Genomics Group,Japanese Foundation For Cancer Research RCV001030609 SCV001193495 likely pathogenic Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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