Variants in gene CYP2D6 with conflicting interpretations

Y axis minimum submission review status:		Y axis collection method:
X axis minimum submission review status:		X axis collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
222	3	0	4	0	18	0	18

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	drug response	protective	other
likely benign	0	0	0	0	4	12	0	12
benign	0	0	0	4	0	4	0	2
drug response	0	0	0	12	4	0	0	8
other	1	1	1	13	3	8	1	0

All variants with conflicting interpretations #

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr)	rs1135840	0.57695
NM_000106.6(CYP2D6):c.1457= (p.Ser486=)	rs1135840	0.42305
CYP2D6*10	rs1065852	0.18675
CYP2D6*4	rs3892097	0.14340
CYP2D6*41	rs28371725	0.06736
NM_000106.6(CYP2D6):c.31G>A (p.Val11Met)	rs769258	0.03995
NM_000106.6(CYP2D6):c.1012G>A (p.Val338Met)	rs59421388	0.02682
NM_000106.6(CYP2D6):c.775del (p.Arg259fs)	rs35742686	0.01277
CYP2D6*6	rs5030655	0.00883
NM_000106.6(CYP2D6):c.709G>T (p.Ala237Ser)	rs28371717	0.00827
NM_000106.5(CYP2D6):c.971A>C (p.His324Pro)	rs5030867	0.00027
NM_000106.5(CYP2D6):c.124G>A (p.Gly42Arg)	rs5030862	0.00024
CYP2D6*17	rs28371706
NM_000106.5(CYP2D6):c.*264G>A (p.Gly169Arg)	rs5030865
NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter)	rs5030865
NM_000106.6(CYP2D6):c.841_843del (p.Lys281del)	rs5030656
NM_000106.6(CYP2D6):c.886= (p.Arg296=)	rs16947
Single allele

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