Variants with conflicting interpretations studied for Epilepsy, familial focal, with variable foci 1

Minimum review status of the submission for Epilepsy, familial focal, with variable foci 1:		Collection method of the submission for Epilepsy, familial focal, with variable foci 1:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
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
87	98	0	4	7	0	2	13

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.

	All conditions
Epilepsy, familial focal, with variable foci 1		likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	1	1	0	0
	uncertain significance	1	0	3	1
	likely benign	0	4	0	3
	benign	0	0	1	0

Condition to condition summary #

Total conditions: 2

Download table as spreadsheet

Condition	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
Familial focal epilepsy with variable foci	0	90	0	4	7	0	2	13
Epilepsy, familial focal, with variable foci 1	164	32	0	1	1	0	0	2

All variants with conflicting interpretations #

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)	rs181347577	0.00218
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr)	rs200653339	0.00200
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys)	rs202083639	0.00049
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr)	rs185576553	0.00021
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro)	rs201312113	0.00019
NM_001242896.3(DEPDC5):c.3643G>A (p.Val1215Met)	rs201603222	0.00019
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)	rs79027628	0.00016
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met)	rs564667614	0.00014
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys)	rs749809456	0.00002
NM_001242896.3(DEPDC5):c.2507A>G (p.Tyr836Cys)	rs773004067	0.00001
NM_001242896.3(DEPDC5):c.1316G>A (p.Arg439His)
NM_001242896.3(DEPDC5):c.3259C>G (p.Arg1087Gly)
NM_001242896.3(DEPDC5):c.767+1G>A	rs2148514247

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.