ClinVar Miner

Variants in gene PACS2 with conflicting interpretations

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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
861 51 0 25 14 0 2 40

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 1 1 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 1 1 0 9 6
likely benign 0 0 9 0 24
benign 0 0 6 24 0

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001100913.3(PACS2):c.2691C>T (p.Phe897=) rs149437508 0.00309
NM_001100913.3(PACS2):c.348G>A (p.Gln116=) rs142209904 0.00234
NM_001100913.3(PACS2):c.181T>G (p.Ser61Ala) rs117514922 0.00156
NM_001100913.3(PACS2):c.2269G>A (p.Ala757Thr) rs151199705 0.00105
NM_001100913.3(PACS2):c.2517C>T (p.Asp839=) rs141292203 0.00057
NM_001100913.3(PACS2):c.2190G>A (p.Ala730=) rs368303452 0.00039
NM_001100913.3(PACS2):c.2136G>A (p.Ala712=) rs145076845 0.00037
NM_001100913.3(PACS2):c.1461C>T (p.Ser487=) rs113443045 0.00036
NM_001100913.3(PACS2):c.1812C>T (p.Ser604=) rs149063451 0.00025
NM_001100913.3(PACS2):c.2610C>T (p.Gly870=) rs201761849 0.00018
NM_001100913.3(PACS2):c.1680G>A (p.Ala560=) rs368051873 0.00015
NM_001100913.3(PACS2):c.1197T>G (p.Asp399Glu) rs199748488 0.00011
NM_001100913.3(PACS2):c.2435C>T (p.Thr812Met) rs782208120 0.00008
NM_001100913.3(PACS2):c.2133C>G (p.Asp711Glu) rs782667380 0.00007
NM_001100913.3(PACS2):c.1139C>T (p.Pro380Leu) rs374328880 0.00006
NM_001100913.3(PACS2):c.1674G>A (p.Ala558=) rs375043527 0.00006
NM_001100913.3(PACS2):c.2318C>T (p.Ala773Val) rs587631980 0.00006
NM_001100913.3(PACS2):c.1269-4A>G rs376690008 0.00005
NM_001100913.3(PACS2):c.2144C>T (p.Ser715Leu) rs374373404 0.00005
NM_001100913.3(PACS2):c.1072C>T (p.Arg358Trp) rs1488845742 0.00004
NM_001100913.3(PACS2):c.1401G>A (p.Gln467=) rs782775675 0.00003
NM_001100913.3(PACS2):c.1518+6G>A rs370156226 0.00002
NM_001100913.3(PACS2):c.1759C>T (p.Arg587Cys) rs782756538 0.00002
NM_001100913.3(PACS2):c.1150C>A (p.Pro384Thr) rs782701010 0.00001
NM_001100913.3(PACS2):c.1781-7C>T rs1555412976 0.00001
NM_001100913.3(PACS2):c.2272G>A (p.Glu758Lys) rs140331410 0.00001
NM_001100913.3(PACS2):c.2630A>G (p.Lys877Arg) rs782685668 0.00001
NM_001100913.3(PACS2):c.1049C>T (p.Pro350Leu)
NM_001100913.3(PACS2):c.1205C>T (p.Thr402Met) rs139419197
NM_001100913.3(PACS2):c.2179G>A (p.Ala727Thr)
NM_001100913.3(PACS2):c.2518G>T (p.Val840Leu) rs782583159
NM_001100913.3(PACS2):c.2692G>A (p.Gly898Arg)
NM_001100913.3(PACS2):c.2692G>C (p.Gly898Arg) rs368316410
NM_001100913.3(PACS2):c.297+8_297+11del rs782460754
NM_001100913.3(PACS2):c.527G>A (p.Ser176Asn) rs782204977
NM_001100913.3(PACS2):c.623C>T (p.Ser208Phe) rs2141147698
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001100913.3(PACS2):c.631G>A (p.Glu211Lys) rs1595718024
NM_001100913.3(PACS2):c.725C>G (p.Thr242Arg) rs780880602
NM_001100913.3(PACS2):c.798C>T (p.Asp266=) rs148337393

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