Is MORC2 p.Asp778fs (c.2331dup) pathogenic?

MORC2 p.Asp778fs (c.2331dup) is classified Uncertain significance in MORC2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-29). No gnomAD frequency available for this variant.

How common is MORC2 p.Asp778fs (c.2331dup) in the general population?

MORC2 p.Asp778fs (c.2331dup) is no gnomAD frequency available for this variant (gnomAD).

MORC2 p.Asp778fs

c.2331dup · rs2517573583 · VCV1707968

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 LoF-intolerant gene
NMD	predicted	premature termination codon in exon 21 of 26
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.7	GERP 1.9, 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: MORC2
Protein: p.Asp778fs
Coding: c.2331dup
MANE Select: NM_001303256
dbSNP: rs2517573583
Type: Duplication
Location: chr22:30933514 (GRCh38)
Gene constraint: LOEUF 0.3 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 78.37 · 9 PDB
Residue 778: the 'disordered' region

Full MORC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

MORC2 p.Leu901_Ser902insMet Uncertain significance ★★ same type
MORC2 p.Val621fs Uncertain significance ★★ same type
MORC2 c.1812+5dup Uncertain significance ★ same type
MORC2 c.1813-3dup Uncertain significance ★ same type
MORC2 c.905-24_905-5dup Uncertain significance ★ same type
MORC2 c.987+1_987+3dup Uncertain significance ★ same type
MORC2 p.Asp1013fs Uncertain significance ★ same type
MORC2 p.Gly403fs 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/morc2-p-asp778fs (accessed [today's date]).

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