ClinVar Miner

Variants in gene PRNP 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
140 17 0 11 1 1 0 11

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 risk factor
pathogenic 0 2 0 0 0 0
likely pathogenic 2 0 0 0 0 0
uncertain significance 0 0 0 1 1 0
likely benign 0 0 1 0 9 1
benign 0 0 1 9 0 1
risk factor 0 0 0 1 1 0

All variants with conflicting interpretations #

Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) rs16990018 0.01612
NM_000311.5(PRNP):c.*70G>A rs116970629 0.00547
NM_000311.5(PRNP):c.204T>C (p.Pro68=) rs532493114 0.00260
NM_000311.5(PRNP):c.372C>G (p.Gly124=) rs201423990 0.00213
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys) rs1800014 0.00092
NM_000311.5(PRNP):c.159C>T (p.Gly53=) rs776188950 0.00004
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408 0.00003
NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del) rs193922906
NM_000311.5(PRNP):c.246_269del (p.60_67PHGGGWGQ[3]) rs138688873
NM_000311.5(PRNP):c.392G>T (p.Gly131Val) rs74315410

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