Variants with conflicting interpretations studied for Infantile-onset ascending hereditary spastic paralysis

Minimum review status of the submission for Infantile-onset ascending hereditary spastic paralysis:		Collection method of the submission for Infantile-onset ascending hereditary spastic paralysis:
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
703	7	8	4	0	0	3	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.

	All conditions
Infantile-onset ascending hereditary spastic paralysis		pathogenic	likely pathogenic	uncertain significance
	pathogenic	8	4	2
	likely pathogenic	4	0	1
	uncertain significance	2	1	0

Condition to condition summary #

Total conditions: 1

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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
Infantile-onset ascending hereditary spastic paralysis	703	7	8	4	0	0	3	14

All variants with conflicting interpretations #

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_020919.4(ALS2):c.2606A>C (p.Gln869Pro)	rs1355321952	0.00001
NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter)	rs121908137	0.00001
NM_020919.4(ALS2):c.575C>T (p.Pro192Leu)	rs778003334	0.00001
NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG	rs387906316
NM_020919.4(ALS2):c.1007_1008del (p.Ile336fs)	rs386134175
NM_020919.4(ALS2):c.1054_1061del (p.Leu352fs)	rs1574786170
NM_020919.4(ALS2):c.2143C>T (p.Gln715Ter)	rs121908139
NM_020919.4(ALS2):c.2537_2538del (p.Asn846fs)	rs386134183
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer)	rs386134187
NM_020919.4(ALS2):c.3703-2A>G	rs1690532210
NM_020919.4(ALS2):c.4573dup (p.Val1525fs)	rs730882256
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr)	rs121908138
NM_020919.4(ALS2):c.4721del (p.Val1574fs)	rs386134188
NM_020919.4(ALS2):c.4832G>A (p.Arg1611Gln)	rs1689578912

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