ClinVar Miner

Variants in gene CC2D1A 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
477 34 0 21 19 0 2 39

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 0 1 1 1 1
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 19 2
likely benign 1 0 19 0 20
benign 1 0 2 20 0

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017721.5(CC2D1A):c.1281T>C (p.Gly427=) rs10410239 0.38118
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met) rs2305777 0.19038
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr) rs11669628 0.10133
NM_017721.5(CC2D1A):c.252G>A (p.Pro84=) rs7250180 0.09465
NM_017721.5(CC2D1A):c.1015A>C (p.Thr339Pro) rs11883041 0.06417
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val) rs61740117 0.00691
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00665
NM_017721.5(CC2D1A):c.1823+15C>G rs139110235 0.00641
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_017721.5(CC2D1A):c.1521C>T (p.Ala507=) rs35337537 0.00471
NM_017721.5(CC2D1A):c.905G>A (p.Arg302Gln) rs73922801 0.00283
NM_017721.5(CC2D1A):c.2088A>G (p.Lys696=) rs73925404 0.00279
NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser) rs56359259 0.00270
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_017721.5(CC2D1A):c.1449C>G (p.Pro483=) rs201221633 0.00197
NM_017721.5(CC2D1A):c.314C>T (p.Ala105Val) rs192358667 0.00180
NM_017721.5(CC2D1A):c.1357-2A>C rs200557641 0.00164
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486 0.00156
NM_017721.5(CC2D1A):c.2372G>A (p.Arg791Gln) rs200354654 0.00141
NM_017721.5(CC2D1A):c.2125+18G>A rs201665826 0.00093
NM_017721.5(CC2D1A):c.2508G>C (p.Glu836Asp) rs34146052 0.00076
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029 0.00072
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln) rs201251295 0.00069
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His) rs201884654 0.00064
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met) rs201177183 0.00062
NM_017721.5(CC2D1A):c.1399C>G (p.Pro467Ala) rs199717745 0.00060
NM_017721.5(CC2D1A):c.60+10C>A rs769120532 0.00013
NM_017721.5(CC2D1A):c.959C>A (p.Pro320Gln) rs765282375 0.00013
NM_017721.5(CC2D1A):c.498C>T (p.Tyr166=) rs373022042 0.00007
NM_017721.5(CC2D1A):c.197-5G>A rs373157979 0.00003
NM_017721.5(CC2D1A):c.822C>T (p.Ala274=) rs1179685623 0.00002
NM_017721.5(CC2D1A):c.1597A>G (p.Met533Val) rs529368098 0.00001
NM_017721.5(CC2D1A):c.2073+7G>A rs539992718
NM_017721.5(CC2D1A):c.2176C>T (p.Arg726Ter) rs754855261
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala) rs77389229
NM_017721.5(CC2D1A):c.313-4G>A rs201853183
NM_017721.5(CC2D1A):c.513+6_513+12del rs541952457
NM_017721.5(CC2D1A):c.531C>T (p.Leu177=) rs372771537
NM_017721.5(CC2D1A):c.696T>G (p.Ser232=) rs534160840

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