Submissions for variant NM_004655.4(AXIN2):c.815+5G>A

dbSNP: rs1057520237

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV003223637	SCV000512221	uncertain significance	not provided	2023-04-10	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Invitae	RCV000552703	SCV000639202	likely benign	Oligodontia-cancer predisposition syndrome	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001027227	SCV001189745	uncertain significance	Hereditary cancer-predisposing syndrome	2023-09-05	criteria provided, single submitter	clinical testing	The c.815+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 1 in the AXIN2 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.
Sema4, Sema4	RCV001027227	SCV002537230	uncertain significance	Hereditary cancer-predisposing syndrome	2021-09-13	criteria provided, single submitter	curation