EPM2A-DT

Chr 6

EPM2A divergent transcript

Also known as: FBXO30-DT

I cannot write a clinical gene summary for EPM2A-DT as no functional or clinical information has been provided. EPM2A-DT appears to be a non-coding RNA or transcript variant, but without data on its biological function, associated diseases, or inheritance patterns, I cannot generate an accurate clinical summary following the specified guidelines.

Research

ResearchGenerating clinical summary…

Clinical Summary— EPM2A-DT

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ClinVar Variants

28 unique Pathogenic / Likely Pathogenic· 174 VUS of 302 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

302 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic12

Likely Pathogenic16

VUS174

Likely Benign78

Benign7

Conflicting9

Pathogenic

Likely Pathogenic

174

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	11	1	0	0	12
Likely Pathogenic	8	8	0	0	16
VUS	0	172	2	0	174
Likely Benign	0	2	13	63	78
Benign	0	1	5	1	7
Conflicting	—				9
Total	19	184	20	64	296

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

View in ClinVar →

5 pathogenic / likely-pathogenic (of 7) ClinVar copy-number / structural variants overlap EPM2A-DT — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →