ClinVar Miner

Variants in gene PRKAG2 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
951 108 0 37 29 0 2 61

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 2 0 0
uncertain significance 2 0 26 6
likely benign 0 26 0 37
benign 0 6 37 0

All variants with conflicting interpretations #

Total variants: 61
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.864+35_864+36insA rs35348247 0.76395
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_016203.3(PRKAG2):c.-520C>T rs73160072 0.01266
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_016203.4(PRKAG2):c.-322T>C rs142348760 0.00504
NM_016203.4(PRKAG2):c.-40C>T rs148715621 0.00503
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358 0.00056
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr) rs201878539 0.00051
NM_016203.4(PRKAG2):c.946+3A>G rs376173303 0.00041
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln) rs201953758 0.00036
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216 0.00035
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala) rs139579816 0.00025
NM_016203.4(PRKAG2):c.1585-4G>A rs373649956 0.00023
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met) rs148056866 0.00021
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=) rs376450705 0.00009
NM_016203.4(PRKAG2):c.594G>A (p.Pro198=) rs397517276 0.00009
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser) rs200589374 0.00008
NM_016203.4(PRKAG2):c.429G>A (p.Ser143=) rs757727533 0.00008
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453 0.00006
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln) rs564358410 0.00006
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=) rs761196275 0.00005
NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=) rs374476363 0.00005
NM_016203.4(PRKAG2):c.1679-3C>T rs371543989 0.00005
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg) rs397517266 0.00004
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) rs397517268 0.00004
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) rs764162597 0.00004
NM_016203.4(PRKAG2):c.*2C>T rs199559205 0.00003
NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=) rs767902787 0.00003
NM_016203.4(PRKAG2):c.1234-6G>A rs780341115 0.00003
NM_016203.4(PRKAG2):c.1584+8G>A rs762649633 0.00003
NM_016203.4(PRKAG2):c.591C>T (p.Pro197=) rs587781126 0.00003
NM_016203.4(PRKAG2):c.1051+3A>G rs376499470 0.00002
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486 0.00002
NM_016203.4(PRKAG2):c.432C>T (p.Pro144=) rs764742900 0.00002
NM_016203.4(PRKAG2):c.186+7C>T rs886062102 0.00001
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser) rs730880970 0.00001
NM_016203.4(PRKAG2):c.42T>A (p.Val14=) rs141316327 0.00001
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537 0.00001
NM_016203.4(PRKAG2):c.684C>T (p.Ala228=) rs151108625 0.00001
NM_016203.4(PRKAG2):c.*896del rs532079387
NM_016203.4(PRKAG2):c.1005+8G>C rs1245068890
NM_016203.4(PRKAG2):c.1106+10dup rs374874465
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu) rs121908991
NM_016203.4(PRKAG2):c.1646A>C (p.Asp549Ala) rs730880982
NM_016203.4(PRKAG2):c.1679-19A>G rs200262620
NM_016203.4(PRKAG2):c.1679-19A>T rs200262620
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala) rs199963585
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) rs757900380
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.66C>G (p.Gly22=) rs730880971
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525

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