ClinVar Miner

Variants with conflicting interpretations studied for Angelman syndrome

Coded as:
Minimum review status of the submission for Angelman syndrome: Collection method of the submission for Angelman syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
605 55 0 8 18 0 4 28

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.

All conditions
Angelman syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 1 0 0
likely pathogenic 5 0 3 0 0
uncertain significance 1 3 0 10 10
likely benign 0 0 10 0 3
benign 0 0 10 3 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Angelman syndrome 605 55 0 8 18 0 4 28

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) rs28528079 0.03018
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) rs61734190 0.02311
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) rs143484751 0.00121
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027 0.00117
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00096
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504 0.00054
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) rs371154816 0.00009
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148 0.00009
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr) rs202161423 0.00007
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=) rs143000400 0.00005
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760 0.00004
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) rs764101035 0.00003
NM_130839.5(UBE3A):c.1881T>C (p.Asp627=) rs587784522 0.00001
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=) rs587780991 0.00001
NM_130839.5(UBE3A):c.1007T>C (p.Met336Thr) rs863225071
NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter) rs587784534
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys) rs1064793307
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=) rs1057523671
NM_130839.5(UBE3A):c.1742A>G (p.Asn581Ser) rs587784517
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del) rs587781234
NM_130839.5(UBE3A):c.2124+19T>G rs587782925
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu) rs587781239
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp) rs587784528
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys) rs587781241
NM_130839.5(UBE3A):c.62+20G>A rs587782906
NM_130839.5(UBE3A):c.63-19_63-17del rs587782921

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