ClinVar Miner

Variants with conflicting interpretations studied for Fanconi anemia complementation group G

Coded as:
Minimum review status of the submission for Fanconi anemia complementation group G: Collection method of the submission for Fanconi anemia complementation group G:
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
174 64 0 15 10 0 3 26

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
Fanconi anemia complementation group G pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 9 1 0 1
likely pathogenic 9 0 1 0 0
uncertain significance 1 1 0 10 2
likely benign 0 0 10 0 6
benign 1 0 2 6 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
Fanconi anemia complementation group G 174 64 0 15 10 0 3 26

All variants with conflicting interpretations #

Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03269
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_004629.2(FANCG):c.238C>T (p.Leu80=) rs115131067 0.00330
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_004629.2(FANCG):c.1545C>T (p.Ala515=) rs201422773 0.00028
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu) rs17880082 0.00014
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu) rs201438531 0.00010
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe) rs17878854 0.00006
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg) rs200677800 0.00004
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg) rs141147618
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter) rs1829056657
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter) rs1829041127
NM_004629.2(FANCG):c.1771dup (p.Leu591fs) rs746392434
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) rs1829130135
NM_004629.2(FANCG):c.511-6dup rs376732298
NM_004629.2(FANCG):c.552dup (p.Ser185fs) rs1412207017
NM_004629.2(FANCG):c.619del (p.Leu207fs)
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410
NM_004629.2(FANCG):c.85-1G>A rs1052044702
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro) rs1563986439
NM_004629.2(FANCG):c.957G>A (p.Pro319=) rs145092954

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