ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2933dup (p.Tyr978Ter)

dbSNP: rs878853292
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000225498 SCV000282295 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000585651 SCV000693522 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing This sequence change inserts one base in exon 10 of the BRCA1 mRNA (c.2933dupA), causing a frameshift at codon 978. This creates a premature translational stop signal p.(Tyr978*) at this position and is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. The mutation database ClinVar contains an entry for this variant (Variation ID: 236270).
Invitae RCV000692747 SCV000820587 pathogenic Hereditary breast ovarian cancer syndrome 2022-04-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr978*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). 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: 29310832, 29335924). ClinVar contains an entry for this variant (Variation ID: 236270). For these reasons, this variant has been classified as Pathogenic.
Color Diagnostics, LLC DBA Color Health RCV001184201 SCV001350122 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing This variant is located in the BRCA1 protein. Splice site prediction tools suggest that this variant may not impact RNA splicing. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV000225498 SCV001499616 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2020-04-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585651 SCV001747807 pathogenic not provided 2021-05-01 criteria provided, single submitter clinical testing

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