Submissions for variant NM_000059.4(BRCA2):c.517-3del

dbSNP: rs779951024

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000637893	SCV000759373	likely benign	Hereditary breast ovarian cancer syndrome	2019-04-03	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001182327	SCV001347755	uncertain significance	Hereditary cancer-predisposing syndrome	2019-12-16	criteria provided, single submitter	clinical testing	This variant causes 1 nucleotide deletion at -3 position in intron 6 of the BRCA2 gene. To our knowledge, functional studies have not been performed for this variant. 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). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics	RCV001182327	SCV005548572	uncertain significance	Hereditary cancer-predisposing syndrome	2024-07-15	criteria provided, single submitter	clinical testing	The c.517-3delC intronic variant, located in intron 5 of the BRCA2 gene, results from a deletion of one nucleotide within intron 5 of the BRCA2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.