ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.*2C>T

dbSNP: rs876659266
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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 RCV000214689 SCV000275522 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-01 criteria provided, single submitter clinical testing The c.*2C>T variant is located in the 3' untranslated region (3’ UTR) of the BRCA2 gene. This variant results from a C to T substitution two nucleotides downstream from the last translated codon. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6502 samples (13004 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 150000 alleles tested) in our clinical cohort. This nucleotide position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of c.*2C>T remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759568 SCV000888964 likely benign not provided 2022-02-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000214689 SCV000914006 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-19 criteria provided, single submitter clinical testing

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