Is TRA2B c.170+1del pathogenic?

TRA2B c.170+1del is classified Pathogenic in TRA2B (ClinVar, No assertion criteria, 1 submitter; last evaluated 2025-11-25). Associated with Ramond-Elliott neurodevelopmental syndrome.

What condition is associated with TRA2B c.170+1del?

TRA2B c.170+1del is associated with Ramond-Elliott neurodevelopmental syndrome (ClinVar).

TRA2B c.170+1del

VCV4531189

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

canonical splice-site (±1/±2)

predicted LoF

gnomAD v4.1

Rare

Conditions

Ramond-Elliott neurodevelopmental syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	canonical splice-site (±1/±2)	predicted loss-of-function in a LoF-intolerant gene
Splicing
Splice region	donor +1	canonical splice dinucleotide (donor +1) · inside the BP7-excluded zone
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 2.1, phastCons 1
Non-coding constraint	Z 1.69	1 kb window · o/e 0.88 · regional · uncalibrated

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: TRA2B
Coding: c.170+1del
MANE Select: NM_004593
Type: Deletion
Location: chr3:185926600 (GRCh38)
Gene constraint: LOEUF 0.528 · pLI 0.96 (gnomAD)
Structure: AlphaFold pLDDT 57.18 · 4 PDB

Full TRA2B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Ramond-Elliott neurodevelopmental syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

TRA2B p.Met1del Pathogenic same condition
TRA2B c.170+1G>A Pathogenic ★ same condition
TRA2B p.Met1Arg Pathogenic same condition
TRA2B p.Met1Val Pathogenic same condition
TRA2B p.Arg15fs Uncertain significance ★ same type
TRA2B p.His94fs Uncertain significance ★ same type
TRA2B p.Met1fs Uncertain significance ★ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/tra2b-c-170-plus-1del (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown