ClinVar Miner

Variants with conflicting interpretations studied for Telangiectasia, hereditary hemorrhagic, type 2

Coded as:
Minimum review status of the submission for Telangiectasia, hereditary hemorrhagic, type 2: Collection method of the submission for Telangiectasia, hereditary hemorrhagic, type 2:
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
630 96 0 31 5 0 8 44

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
Telangiectasia, hereditary hemorrhagic, type 2 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 19 2 0 0
likely pathogenic 22 0 6 0 0
uncertain significance 2 6 0 4 1
likely benign 0 0 4 0 9
benign 0 0 1 9 0

Condition to condition summary #

Total conditions: 2
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
Telangiectasia, hereditary hemorrhagic, type 2 637 92 0 28 5 0 8 41
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia 0 11 0 8 0 0 0 8

All variants with conflicting interpretations #

Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000020.3(ACVRL1):c.-52G>A rs573048639 0.00390
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=) rs147005473 0.00040
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499 0.00031
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056 0.00031
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575 0.00014
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098 0.00009
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751 0.00006
NM_000020.3(ACVRL1):c.526-11C>T rs573934792 0.00004
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp) rs145300204 0.00004
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=) rs556168617 0.00002
NM_000020.3(ACVRL1):c.429C>T (p.Val143=) rs762047618 0.00002
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426 0.00001
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) rs1085307405 0.00001
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr) rs1940813707
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg) rs1085307418
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1246+5G>A rs1940838881
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr) rs1085307428
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe) rs1318118188
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) rs556168617
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro) rs1555152790
NM_000020.3(ACVRL1):c.625+1G>A
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro) rs1085307409
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys) rs750085854
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg) rs750085854
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe) rs1085307410
NM_000020.3(ACVRL1):c.889del (p.His297fs) rs1060503245
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro) rs1940810597
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr) rs1592224291

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