ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.438G>A (p.Trp146Ter)

dbSNP: rs587781806
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001022405 SCV001184136 pathogenic Hereditary cancer-predisposing syndrome 2019-09-10 criteria provided, single submitter clinical testing The p.W146* pathogenic mutation (also known as c.438G>A), located in coding exon 4 of the BARD1 gene, results from a G to A substitution at nucleotide position 438. This changes the amino acid from a tryptophan to a stop codon within coding exon 4. This alteration was detected in a cohort of 8085 consecutive unselected Chinese patients with breast cancer who underwent multi-gene panel testing (Sun J et al. Clin. Cancer Res., 2017 Oct;23:6113-6119). In addition to the clinical data presented in the literature, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001862215 SCV002244715 pathogenic Familial cancer of breast 2024-08-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp146*) 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: 28724667). ClinVar contains an entry for this variant (Variation ID: 824854). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV001862215 SCV004044184 pathogenic Familial cancer of breast 2023-05-18 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.
Baylor Genetics RCV001862215 SCV004217292 pathogenic Familial cancer of breast 2023-03-24 criteria provided, single submitter clinical testing

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