ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.426-7_426-4del

dbSNP: rs1566218725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772934 SCV000906316 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772934 SCV002627789 uncertain significance Hereditary cancer-predisposing syndrome 2015-04-29 criteria provided, single submitter clinical testing The c.426-7_426-4delATTT intronic variant (also known as IVS4-7del4) is located four nucleotides upstream from coding exon 4 of the BRCA2 gene. This variant results from a deletion of four nucleotides at positions c.426-7 to c.426-4. 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 6485 samples (12970 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. The nucleotide region involving this intronic deletion is poorly conserved conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this acceptor/donor splice site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of c.426-7_426-4delATTT remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005092245 SCV005757894 uncertain significance Hereditary breast ovarian cancer syndrome 2024-06-12 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the BRCA2 gene. It does not directly change the encoded amino acid sequence of the BRCA2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 628464). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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