ClinVar Miner

Variants from ClinGen Antibody Deficiencies Variant Curation Expert Panel, ClinGen with conflicting interpretations

Location: United States  Primary collection method: curation
Minimum review status of the submission from ClinGen Antibody Deficiencies Variant Curation Expert Panel, ClinGen: Collection method of the submission from ClinGen Antibody Deficiencies Variant Curation Expert Panel, ClinGen:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
21 34 0 17 18 0 3 36

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 submitters
ClinGen Antibody Deficiencies Variant Curation Expert Panel, ClinGen pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 0 0 0
likely pathogenic 8 0 1 0 0
uncertain significance 1 2 0 0 0
likely benign 0 0 11 0 2
benign 0 0 7 3 0

Submitter to submitter summary #

Total submitters: 10
Download table as spreadsheet
Submitter 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
Labcorp Genetics (formerly Invitae), Labcorp 0 37 0 10 17 0 3 30
National Institute of Immunohaematology, Indian Council of Medical Research 0 1 0 2 0 0 0 2
OMIM 0 5 0 2 0 0 0 2
3billion 0 1 0 1 0 0 0 1
Department of Ophthalmology, Flinders Medical Centre 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 0 1 0 0 1
Immunology Clinic, Ucla 0 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 1 0 0 0 1
New York Genome Center 0 0 0 0 1 0 0 1
Next Generation Genetic Polyclinic 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005026.5(PIK3CD):c.436T>A (p.Phe146Ile) rs142285826 0.00117
NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys) rs141200414 0.00028
NM_005026.5(PIK3CD):c.1777G>C (p.Gly593Arg) rs143068130 0.00021
NM_005214.5(CTLA4):c.23G>A (p.Arg8Gln) rs138279736 0.00021
NM_005214.5(CTLA4):c.516G>A (p.Ser172=) rs375949600 0.00018
NM_005026.5(PIK3CD):c.854T>C (p.Met285Thr) rs557471275 0.00017
NM_005026.5(PIK3CD):c.780+3G>A rs370943912 0.00015
NM_005026.5(PIK3CD):c.112C>T (p.Arg38Cys) rs765729544 0.00011
NM_005214.5(CTLA4):c.257C>T (p.Ala86Val) rs376038796 0.00006
NM_005026.5(PIK3CD):c.455C>T (p.Ala152Val) rs755788138 0.00005
NM_005026.5(PIK3CD):c.899G>A (p.Arg300His) rs780386111 0.00004
NM_005214.5(CTLA4):c.615C>G (p.Pro205=) rs74808460 0.00004
NM_005026.5(PIK3CD):c.1470+15C>T rs375880685 0.00003
NM_005214.5(CTLA4):c.110-7A>G rs200180357 0.00002
NM_005026.5(PIK3CD):c.2296G>A (p.Glu766Lys) rs745896452 0.00001
NM_005026.5(PIK3CD):c.3071G>A (p.Arg1024His) rs759704849 0.00001
NM_005026.5(PIK3CD):c.419G>A (p.Arg140His) rs1647336657 0.00001
NM_005026.5(PIK3CD):c.580G>A (p.Val194Ile) rs569586715 0.00001
NM_005214.5(CTLA4):c.223C>T (p.Arg75Trp) rs1688714312 0.00001
NM_005214.5(CTLA4):c.371C>T (p.Thr124Met) rs757773669 0.00001
NM_005214.5(CTLA4):c.467C>T (p.Pro156Leu) rs756706504 0.00001
NM_005214.5(CTLA4):c.515C>T (p.Ser172Leu) rs963824682 0.00001
NM_005214.5(CTLA4):c.553T>A (p.Ser185Thr) rs773775010 0.00001
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys) rs28730670
NM_005026.5(PIK3CD):c.1002C>G (p.Asn334Lys) rs28730670
NM_005026.5(PIK3CD):c.1246T>C (p.Cys416Arg) rs587777390
NM_005026.5(PIK3CD):c.1570T>A (p.Tyr524Asn) rs2100954909
NM_005026.5(PIK3CD):c.1571A>C (p.Tyr524Ser) rs2100954945
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) rs587777389
NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly) rs1557669079
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter) rs606231417
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys) rs1581573923
NM_005214.5(CTLA4):c.47C>A (p.Ala16Asp)
NM_005214.5(CTLA4):c.563A>G (p.Lys188Arg)

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