ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.68-5A>G

dbSNP: rs1555280326
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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 RCV000561594 SCV000665999 pathogenic Hereditary cancer-predisposing syndrome 2019-10-31 criteria provided, single submitter clinical testing The c.68-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 2 in the BRCA2 gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice acceptor site. Quantitative RTPCR studies from patient material show that this alteration leads to the use of this cryptic acceptor site resulting in a transcript with an additional four nucleotides from intron 1 included leading to a frameshift (Gelli E et al. Cancers (Basel), 2019 Mar;11:). Based on the majority of available evidence to date, this alteration is classified as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV001243342 SCV001416495 uncertain significance Hereditary breast ovarian cancer syndrome 2020-06-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 30832263). This variant has not been reported in the literature in individuals with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 481516). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 2 of the BRCA2 gene. It does not directly change the encoded amino acid sequence of the BRCA2 protein.
Baylor Genetics RCV004569147 SCV005059061 uncertain significance Familial cancer of breast 2024-02-12 criteria provided, single submitter clinical testing

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