ClinVar Miner

Variants with conflicting interpretations studied for Aicardi Goutieres syndrome

Coded as:
Minimum review status of the submission for Aicardi Goutieres syndrome: Y axis collection method of the submission for Aicardi Goutieres 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 Variants with at least 2 submissions 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 kind of conflict
72 50 0 20 9 0 1 27

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
Aicardi Goutieres syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 3 0 1 1 0
uncertain significance 0 0 0 4 4
likely benign 1 1 4 0 17

Condition to condition summary #

Total conditions: 13
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not specified 0 2 0 12 1 0 0 13
Aicardi Goutieres syndrome 4 0 0 0 6 1 0 0 7
not provided 0 6 0 3 4 0 1 6
Aicardi Goutieres syndrome 2 0 2 0 4 1 0 0 5
Aicardi Goutieres syndrome 3 0 1 0 1 3 0 0 4
Aicardi Goutieres syndrome 1; Vasculopathy, retinal, with cerebral leukodystrophy; Chilblain lupus erythematosus 0 2 0 3 0 0 0 3
Aicardi Goutieres syndrome 147 0 0 1 0 0 1 2
Aicardi Goutieres syndrome 5 0 3 0 1 1 0 0 2
ADAR-Related Disorders 0 0 0 1 0 0 1 1
Aicardi-Goutieres syndrome 6 0 0 0 1 0 0 1 1
Inborn genetic diseases 0 0 0 1 0 0 1 1
Symmetrical dyschromatosis of extremities 0 0 0 0 0 0 1 1
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 0 0 0 0 1 0 1 1

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_006397.2(RNASEH2A):c.-16T>C rs1046220
NM_006397.2(RNASEH2A):c.33A>G (p.Thr11=) rs11554400
NM_006397.2(RNASEH2A):c.462G>A (p.Gln154=) rs7257575
NM_006397.2(RNASEH2A):c.550-11T>C rs7247253
NM_006397.2(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971
NM_006397.2(RNASEH2A):c.605T>C (p.Leu202Ser) rs7247284
NM_006397.2(RNASEH2A):c.615T>A (p.Asp205Glu) rs62619782
NM_006397.2(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021
NM_006397.2(RNASEH2A):c.777C>T (p.Ser259=) rs76634951
NM_015474.3(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112
NM_015474.3(SAMHD1):c.1692C>T (p.Ala564=) rs200856791
NM_015474.3(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777
NM_024570.3(RNASEH2B):c.156G>A (p.Leu52=) rs35416748
NM_024570.3(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024570.3(RNASEH2B):c.822+6T>C rs76413207
NM_024570.3(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326
NM_024570.3(RNASEH2B):c.925dupA (p.Ile309Asnfs) rs75254367
NM_032193.3(RNASEH2C):c.-10A>G rs77371161
NM_032193.3(RNASEH2C):c.268_270delAAG (p.Lys90del) rs141875736
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.468+13G>A rs182000627
NM_032193.3(RNASEH2C):c.61T>C (p.Leu21=) rs376140250
NM_033629.4(TREX1):c.198G>A (p.Lys66=) rs3135943
NM_033629.4(TREX1):c.462T>C (p.Asp154=) rs3135944
NM_033629.5(TREX1):c.797A>G (p.Glu266Gly) rs55999987

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