ClinVar Miner

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

dbSNP: rs1553619721
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Total submissions: 5
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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 ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Myriad Genetics, Inc. RCV003335479 SCV004044941 pathogenic Familial cancer of breast 2023-05-23 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.
Invitae RCV003335479 SCV004540539 pathogenic Familial cancer of breast 2023-02-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln449*) in the BARD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 29338689, 32566746). ClinVar contains an entry for this variant (Variation ID: 479182). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Genotyping Development, RIKEN RCV003159956 SCV002758090 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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