ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8953+5del

dbSNP: rs797045414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193426 SCV000246809 uncertain significance not specified 2015-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000792908 SCV000932235 likely benign Hereditary breast ovarian cancer syndrome 2024-11-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278689 SCV004005420 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-19 criteria provided, single submitter clinical testing The c.8953+5delG intronic variant, located in intron 21 of the BRCA2 gene, results from a deletion of one nucleotide within intron 21 of the BRCA2 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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