ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2351C>A (p.Ser784Ter)

dbSNP: rs55914168
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576685 SCV000677889 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-03-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985385 SCV001133524 likely pathogenic not provided 2019-07-11 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/282034 chr).
Ambry Genetics RCV002448809 SCV002733114 pathogenic Hereditary cancer-predisposing syndrome 2019-07-05 criteria provided, single submitter clinical testing The p.S784* pathogenic mutation (also known as c.2351C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide position 2351. This changes the amino acid from a serine to a stop codon within coding exon 9. 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.

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