Variants in gene DLAT 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
226	10	0	11	3	0	0	14

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
pathogenic	0	3	0	0	0
likely pathogenic	3	0	0	0	0
uncertain significance	0	0	0	3	0
likely benign	0	0	3	0	8
benign	0	0	0	8	0

All variants with conflicting interpretations #

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001931.5(DLAT):c.953T>C (p.Val318Ala)	rs627441	0.51169
NM_001931.5(DLAT):c.128C>T (p.Ala43Val)	rs2303436	0.32827
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)	rs10891314	0.32172
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys)	rs116125936	0.00703
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)	rs61757217	0.00689
NM_001931.5(DLAT):c.570A>G (p.Gln190=)	rs143107853	0.00160
NM_001931.5(DLAT):c.583C>T (p.Pro195Ser)	rs149440666	0.00006
NM_001931.5(DLAT):c.165C>G (p.Val55=)	rs199520186	0.00005
NM_001931.5(DLAT):c.976-1G>A	rs367875541	0.00003
NM_001931.5(DLAT):c.423G>A (p.Glu141=)	rs781936816	0.00001
NM_001931.4(DLAT):c.381+22delT	rs5794771
NM_001931.5(DLAT):c.381+22dup	rs5794771
NM_001931.5(DLAT):c.470T>G (p.Val157Gly)	rs797044957
NM_001931.5(DLAT):c.848_849del (p.Asp283fs)	rs782704553

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