Is DICER1 p.Arg263fs (c.787dup) pathogenic?

DICER1 p.Arg263fs (c.787dup) is classified Pathogenic in DICER1 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-12-12). Absent from gnomAD; Associated with hereditary neoplastic syndrome.

What condition is associated with DICER1 p.Arg263fs (c.787dup)?

DICER1 p.Arg263fs (c.787dup) is associated with hereditary neoplastic syndrome (ClinVar).

How common is DICER1 p.Arg263fs (c.787dup) in the general population?

DICER1 p.Arg263fs (c.787dup) is absent from gnomAD (gnomAD).

DICER1 p.Arg263fs

c.787dup · rs2543230737 · VCV1760993

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

hereditary neoplastic syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 7 of 27
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.4	GERP 0.49, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DICER1
Protein: p.Arg263fs
Coding: c.787dup
MANE Select: NM_177438
dbSNP: rs2543230737
Type: Duplication
Location: chr14:95126695 (GRCh38)
Gene constraint: LOEUF 0.275 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 67.89 · 21 PDB
Residue 263: the 'required for interaction with prkra and tarbp2' region

Full DICER1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hereditary neoplastic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DICER1 p.Arg263= Likely benign ★★ same residue
DICER1 p.Arg263Thr Uncertain significance ★ ⚠ same residue
DICER1 p.Trp1831fs Uncertain significance ★★★ same condition
DICER1 p.Asn1393dup Likely benign ★★★ same condition
DICER1 c.2436+1dup Likely pathogenic ★★ same condition
DICER1 p.Ala1116fs Pathogenic ★★ same condition
DICER1 p.Ala1816fs Pathogenic ★★ same condition
DICER1 p.Arg1368fs Pathogenic/Likely pathogenic ★★ same condition

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/dicer1-p-arg263fs (accessed [today's date]).

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