ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3253_3254insAA (p.Arg1085fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Care Center, Daerim St. Mary`s Hospital RCV003329158 SCV004030487 likely pathogenic Hereditary breast ovarian cancer syndrome 2020-11-06 criteria provided, single submitter clinical testing The BRCA1:c.3253_3254insAA (p.Arg1085fs) variant was located in coding exon 10 of the BRCA1 gene. This insertion results in a frameshift, causing NMD(nonsense-mediated mRNA decay) and loss-of function. This type of variant is a known mechanisms of disease. Additionally, this null variant is not found in gnomAD genomes/exomes. This likely pathogenic variant was identified in a 44-year-old Korean female who had been diagnosed with breast cancer. The patient had a second-degree family member in their 70s who was diagnosed with pancreatic cancer.

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