ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9593_9594del (p.Cys3198fs) (rs1566260198)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019519 SCV001180889 pathogenic Hereditary cancer-predisposing syndrome 2019-07-09 criteria provided, single submitter clinical testing The c.9593_9594delGT pathogenic mutation, located in coding exon 25 of the BRCA2 gene, results from a deletion of two nucleotides at nucleotide positions 9593 to 9594, causing a translational frameshift with a predicted alternate stop codon (p.C3198Yfs*23).This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000681959 SCV001470263 likely pathogenic not provided 2020-03-27 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, 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.
Color Health, Inc RCV001019519 SCV001736073 pathogenic Hereditary cancer-predisposing syndrome 2020-06-08 criteria provided, single submitter clinical testing This variant deletes 2 nucleotides in exon 26 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Gharavi Laboratory,Columbia University RCV000681959 SCV000809454 pathogenic not provided 2018-09-16 no assertion criteria provided research

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