ClinVar Miner

Variants in gene AFG3L2 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
149 11 9 8 2 0 3 19

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 9 2 1 0 0
likely pathogenic 2 0 1 1 0
uncertain significance 1 1 0 1 1
likely benign 0 1 1 0 6
benign 0 0 1 6 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_006796.2(AFG3L2):c.1295A>C (p.Asn432Thr) rs151344512
NM_006796.2(AFG3L2):c.1319-7C>T rs182327153
NM_006796.2(AFG3L2):c.1389G>A (p.Leu463=) rs11080572
NM_006796.2(AFG3L2):c.1650A>G (p.Glu550=) rs11553521
NM_006796.2(AFG3L2):c.1866G>A (p.Leu622=) rs777264204
NM_006796.2(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006796.2(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.2(AFG3L2):c.1997T>G (p.Met666Arg) rs151344515
NM_006796.2(AFG3L2):c.2011G>A (p.Gly671Arg) rs151344517
NM_006796.2(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu) rs151344519
NM_006796.2(AFG3L2):c.2071G>A (p.Glu691Lys) rs151344520
NM_006796.2(AFG3L2):c.2081C>A (p.Ala694Glu) rs151344521
NM_006796.2(AFG3L2):c.463G>A (p.Gly155Ser) rs863223888
NM_006796.2(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021
NM_006796.2(AFG3L2):c.98A>C (p.Gln33Pro) rs777868371
NM_006796.3(AFG3L2):c.1479G>A (p.Pro493=) rs761143170
NM_006796.3(AFG3L2):c.2105G>A rs151344523
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_006796.3(AFG3L2):c.2167G>A rs139469785

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