IDH2-DT

Chr 15

IDH2 divergent transcript

I cannot provide a clinical summary for IDH2-DT as no information about this gene's protein function, associated diseases, or inheritance pattern has been provided in the data below the instructions. To write an accurate clinical summary following the strict rules, I would need specific information about what the IDH2-DT gene product does, what phenotypes result from mutations, and the inheritance pattern.

Research

ResearchGenerating clinical summary…

Clinical Summary— IDH2-DT

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ClinVar Variants

20 VUS of 35 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

35 submitted variants in ClinVar

ClinVar

Classification Summary

VUS20

Likely Benign10

Benign4

Conflicting1

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	0	0	0	0
VUS	1	18	1	0	20
Likely Benign	0	0	4	6	10
Benign	0	0	3	1	4
Conflicting	—				1
Total	1	18	8	7	35

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

13 pathogenic / likely-pathogenic (of 14) ClinVar copy-number / structural variants overlap IDH2-DT — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →