ClinVar Miner

Variants in gene PSEN2 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:
Gene type:
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
100 11 2 6 7 0 1 16

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 2 1 0 0 1
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 7 0
likely benign 0 0 7 0 5
benign 1 0 0 5 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
NM_000447.3(PSEN2):c.100G>A (p.Gly34Ser) rs200636353
NM_000447.3(PSEN2):c.1139C>A (p.Thr380Lys) rs143912759
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser) rs188598190
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg) rs139972151
NM_000447.3(PSEN2):c.300C>T (p.Ile100=) rs200801915
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197
NM_000447.3(PSEN2):c.415G>A (p.Val139Met) rs202178897
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000447.3(PSEN2):c.690C>G (p.Ala230=) rs145010538
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) rs63749884
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142
NM_000447.3(PSEN2):c.903G>T (p.Thr301=) rs6426553
NM_000447.3(PSEN2):c.954C>T (p.Pro318=) rs199587016

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