Is RASGRP2 p.Asp91Ter (c.270dup) pathogenic?

RASGRP2 p.Asp91Ter (c.270dup) is classified Pathogenic in RASGRP2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-07-24). No gnomAD frequency available for this variant.

How common is RASGRP2 p.Asp91Ter (c.270dup) in the general population?

RASGRP2 p.Asp91Ter (c.270dup) is no gnomAD frequency available for this variant (gnomAD).

RASGRP2 p.Asp91Ter

c.270dup · rs2496571415 · VCV2019503

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

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	nonsense (stop-gain)	predicted loss-of-function
NMD	predicted	premature termination codon in exon 5 of 17
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.5	GERP 0.34, 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: RASGRP2
Protein: p.Asp91Ter
Coding: c.270dup
MANE Select: NM_001098671
dbSNP: rs2496571415
Type: Duplication
Location: chr11:64741048 (GRCh38)
Gene constraint: LOEUF 0.854 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 77.48 · 2 PDB
Residue 91: the n-terminal ras-gef domain; an α-helix

Full RASGRP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

RASGRP2 p.Asn69fs Pathogenic ★ same type
RASGRP2 p.Pro401fs Pathogenic ★ same type
RASGRP2 c.372-3dup Conflicting classifications of pathogenicity ★ same type
RASGRP2 c.1591+47_1591+48dup Likely benign ★ same type
RASGRP2 c.1591+48dup Benign ★ same type
RASGRP2 c.813+218_813+219dup Benign ★ same type
RASGRP2 p.Arg494fs Likely 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/rasgrp2-p-asp91ter (accessed [today's date]).

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