ClinVar Miner

Variants in gene GPSM2 with conflicting interpretations

See also:
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
170 28 0 13 8 0 0 20

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 5 0 0 0
likely pathogenic 5 0 0 0 0
uncertain significance 0 0 0 7 2
likely benign 0 0 7 0 8
benign 0 0 2 8 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln) rs41279678 0.09671
NM_013296.5(GPSM2):c.828A>G (p.Lys276=) rs338489 0.02763
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689 0.00145
NM_013296.5(GPSM2):c.833G>A (p.Arg278Gln) rs190381417 0.00139
NM_013296.5(GPSM2):c.1263+11G>A rs201878481 0.00077
NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile) rs61758992 0.00074
NM_013296.5(GPSM2):c.505G>A (p.Glu169Lys) rs775142959 0.00010
NM_013296.5(GPSM2):c.1440+4C>T rs557163760 0.00007
NM_013296.5(GPSM2):c.57-10A>G rs184863735 0.00007
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) rs145191476 0.00006
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter) rs370907055 0.00004
NM_013296.5(GPSM2):c.186C>T (p.Ser62=) rs199575734 0.00001
NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg) rs61754640
NM_013296.5(GPSM2):c.1080_1081del (p.Glu361fs) rs1353848256
NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala) rs147906282
NM_013296.5(GPSM2):c.1501del (p.Ser501fs) rs761092578
NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del) rs35029887
NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del) rs145997327
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_013296.5(GPSM2):c.954-19G>T rs17030744

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.