TM4SF19-DYNLT2B

Chr 3

TM4SF19-DYNLT2B readthrough (NMD candidate)

Also known as: TM4SF19-TCTEX1D2

This locus represents a naturally occurring read-through transcript between neighboring genes TM4SF19 and DYNLT2B that is subject to nonsense-mediated decay and does not produce a functional protein product. No human diseases have been associated with mutations in this read-through transcript. This transcript is not considered a clinically relevant gene for diagnostic purposes.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring transmembrane 4 L six family member 19 (TM4SF19) and Tctex1 domain containing 2 (TCTEX1D2) genes on chromosome 3. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus not expected to produce a protein product. [provided by RefSeq, Mar 2011]

ResearchGenerating clinical summary…

Clinical Summary— TM4SF19-DYNLT2B

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ClinVar Variants

5 unique Pathogenic / Likely Pathogenic· 53 VUS of 84 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

84 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5

VUS53

Likely Benign18

Benign6

Conflicting1

Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	5	0	0	0	5
Likely Pathogenic	0	0	0	0	0
VUS	2	48	1	2	53
Likely Benign	0	7	7	4	18
Benign	0	1	4	1	6
Conflicting	—				1
Total	7	56	12	7	83

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

View in ClinVar →

47 pathogenic / likely-pathogenic (of 52) ClinVar copy-number / structural variants overlap TM4SF19-DYNLT2B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →