Is MRAS p.Ile110= (c.330C>T) pathogenic?

MRAS p.Ile110= (c.330C>T) is classified Benign/Likely benign in MRAS (ClinVar, Multiple submitters, 4 submitters; last evaluated 2026-05-12). Rare (popmax 0.112%, afr); Associated with Inborn genetic diseases.

What condition is associated with MRAS p.Ile110= (c.330C>T)?

MRAS p.Ile110= (c.330C>T) is associated with Inborn genetic diseases (ClinVar).

How common is MRAS p.Ile110= (c.330C>T) in the general population?

MRAS p.Ile110= (c.330C>T) is rare (popmax 0.112%, afr) (gnomAD).

MRAS p.Ile110=

c.330C>T · rs151130678 · VCV1601704

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

gnomAD v4.1

Rare

rare (popmax 0.112%, afr)

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.8	GERP 1.5, phastCons 1
Overall
CADD	11.04	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.112% African / African-American · 84/75,056 alleles

Filtering AF 0.0926% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0854%

Overall 0.00582% 94/1,614,110 alleles · rare exomes 54/1,461,820 · genomes 40/152,290 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.112%	894
Admixed American	0.00667%	15,003
Remaining individualsnot grpmax-eligible	0.0048%	20,833
South Asian	0.0011%	91,072
European (non-Finnish)	0.000169%	589,988

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: MRAS
Protein: p.Ile110=
Coding: c.330C>T
MANE Select: NM_001085049
dbSNP: rs151130678
Type: single nucleotide variant
Location: chr3:138397460 (GRCh38)
Gene constraint: LOEUF 0.444 · pLI 0.99 (gnomAD)
Structure: AlphaFold pLDDT 86.61 · 11 PDB
Residue 110: an α-helix

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

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

MRAS p.Ala167Gly Uncertain significance ★★ ⚠ same condition
MRAS p.Arg105Cys Uncertain significance ★★ ⚠ same condition
MRAS p.Arg193Gln Uncertain significance ★★ ⚠ same condition
MRAS p.Asn10Ser Uncertain significance ★★ ⚠ same condition
MRAS p.Asn126Lys Uncertain significance ★★ ⚠ same condition
MRAS p.Asn126Ser Uncertain significance ★★ ⚠ same condition
MRAS p.Gln178Lys Uncertain significance ★★ ⚠ same condition
MRAS p.Glu117Gly Uncertain significance ★★ 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/mras-p-ile110 (accessed [today's date]).

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