Is FREM2 p.Arg930fs (c.2788dup) pathogenic?

FREM2 p.Arg930fs (c.2788dup) is classified Pathogenic in FREM2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-15). No gnomAD frequency available for this variant.

How common is FREM2 p.Arg930fs (c.2788dup) in the general population?

FREM2 p.Arg930fs (c.2788dup) is no gnomAD frequency available for this variant (gnomAD).

FREM2 p.Arg930fs

c.2788dup · rs2541356389 · VCV2768640

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

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 1 of 24
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.076	GERP -5.2, phastCons 0.53

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: FREM2
Protein: p.Arg930fs
Coding: c.2788dup
MANE Select: NM_207361
dbSNP: rs2541356389
Type: Duplication
Location: chr13:38690131 (GRCh38)
Gene constraint: LOEUF 0.588 · pLI <0.01 (gnomAD)
Residue 930: a UniProt-annotated variant site (in cryptop)

Full FREM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

FREM2 p.Asp1100Ter Pathogenic ★★ same type
FREM2 p.Met1985fs Pathogenic/Likely pathogenic ★★ same type
FREM2 p.Phe1722fs Pathogenic/Likely pathogenic ★★ same type
FREM2 c.7520-5dup Benign/Likely benign ★★ same type
FREM2 c.7520-6_7520-5dup Benign ★★ same type
FREM2 p.Ala2108fs Pathogenic ★ same type
FREM2 p.Arg1810fs Pathogenic ★ same type
FREM2 p.Arg1988fs Pathogenic ★ 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/frem2-p-arg930fs (accessed [today's date]).

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