Variant
TRDN D18Afs*14
NM_006073.4(TRDN):c.53_56del (p.Asp18AlafsTer14)
- p.Asp18AlafsTer14
- p.D18Afs*14
- rs768049331
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 20 June 2024
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Summary
D18Afs*14 is a frameshift variant in TRDN: it adds or removes DNA letters in a way that shifts how the rest of the gene's code is read. ClinVar classifies it as pathogenic for catecholaminergic polymorphic ventricular tachycardia 5 (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| catecholaminergic polymorphic ventricular tachycardia 5ClinVar VCV000066015 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 20 June 2024 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in TRDN
D18Afs*14 lies in exon 2 of the 41 in TRDN's MANE Select transcript, NM_006073.4.
Molecular details
| Gene | TRDN |
|---|---|
| Transcript | NM_006073.4MANE Select |
| Coding DNA change (HGVS c.) | c.53_56del |
| Protein change (HGVS p.) | p.Asp18AlafsTer14p.D18Afs*14 |
| Predicted consequence | Frameshiftframeshift_variant (opens in a new tab)frameshift_truncation (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chr6:123571098 GCTGT>G |
| Position (GRCh37) | chr6:123892243 GCTGT>G |
| dbSNP ID | rs768049331 (opens in a new tab) |
| ClinVar Variation ID | VCV000066015 (opens in a new tab) |
| ClinVar Allele ID | 76925 |
| ClinGen Allele Registry ID | CA3984487 (opens in a new tab) |
| ClinVar name | NM_006073.4(TRDN):c.53_56del (p.Asp18fs) |
TRDN D18Afs*14 in other databases
Reports that look at this variant (1)
These Genome Test condition reports include D18Afs*14 among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Catecholaminergic Polymorphic Ventricular Tachycardia | Ventricular Tachycardia, Familial | |
| Polymorphic Ventricular Tachycardia |
Other variants in TRDN
- c.22+29A>GPathogenic2 stars out of 4
- c.391+1G>ALikely pathogenic2 stars out of 4
- c.550+1_550+2insALikely pathogenic2 stars out of 4
- E168XPathogenic/likely pathogenic2 stars out of 4
- E178Kfs*45Pathogenic/likely pathogenic2 stars out of 4
- Q205XPathogenic2 stars out of 4
- V162Lfs*13Pathogenic2 stars out of 4
Limitations
This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.
Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.
Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.
If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.
Sources & credits
- Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information.
- Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
- Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
- Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16).
- Difficult regions from the Genome in a Bottle Consortium (release v3.6).
- Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
- Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
- Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026.
Cite this page
Dante Labs. (16 October 2026). TRDN D18Afs*14 (c.53_56del, rs768049331) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/trdn/variants/d18afs14
Dante Labs. TRDN D18Afs*14 (c.53_56del, rs768049331) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/trdn/variants/d18afs14
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