ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.592G>T (p.Glu198Ter)

dbSNP: rs1553645720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649780 SCV000771614 pathogenic BAP1-related tumor predisposition syndrome 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu198*) in the BAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BAP1 are known to be pathogenic (PMID: 21874000, 23684012). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with BAP1-related conditions (PMID: 26154183). ClinVar contains an entry for this variant (Variation ID: 539909). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002358868 SCV002649915 pathogenic Hereditary cancer-predisposing syndrome 2019-02-12 criteria provided, single submitter clinical testing The p.E198* pathogenic mutation (also known as c.592G>T), located in coding exon 8 of the BAP1 gene, results from a G to T substitution at nucleotide position 592. This changes the amino acid from a glutamic acid to a stop codon within coding exon 8. This alteration was seen in a patient with multiple cutaneous melanomas and dysplastic nevi and a family history of lung adenocarcinoma in a first-degree relative (Gerami P et al. JAMA Dermatol, 2015 Nov;151:1235-9). 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.
Myriad Genetics, Inc. RCV000649780 SCV004187412 pathogenic BAP1-related tumor predisposition syndrome 2023-07-21 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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