ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3064dup (p.Thr1022fs)

dbSNP: rs1135401858
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018402 SCV001179636 pathogenic Hereditary cancer-predisposing syndrome 2019-08-21 criteria provided, single submitter clinical testing The c.3064dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 3064, causing a translational frameshift with a predicted alternate stop codon (p.T1022Nfs*6). This variant was identified in 1/2733 women aged 40 years or younger at first diagnosis of invasive breast cancer (Copson ER et al. Lancet Oncol., 2018 02;19:169-180). 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 RCV000496552 SCV003260942 pathogenic Hereditary breast ovarian cancer syndrome 2021-12-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 431240). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr1022Asnfs*6) 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).
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496552 SCV000587278 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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