Is CD151 p.Gln117Ter (c.349C>T) pathogenic?

CD151 p.Gln117Ter (c.349C>T) is classified Uncertain significance in CD151 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-01-10). Absent from gnomAD v4.1; Associated with RAPH BLOOD GROUP SYSTEM.

What condition is associated with CD151 p.Gln117Ter (c.349C>T)?

CD151 p.Gln117Ter (c.349C>T) is associated with RAPH BLOOD GROUP SYSTEM, epidermolysis bullosa simplex 7, with nephropathy and deafness (ClinVar).

How common is CD151 p.Gln117Ter (c.349C>T) in the general population?

CD151 p.Gln117Ter (c.349C>T) is absent from gnomAD v4.1 (gnomAD).

CD151 p.Gln117Ter

c.349C>T · rs2495978398 · VCV2103252

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

RAPH BLOOD GROUP SYSTEM

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function
NMD	predicted	premature termination codon in exon 5 of 9
Splicing
SpliceAI	Δ0.94	donor gain · deltas
Pangolin	Δ0.62	gain · loss 0.19 · agrees with SpliceAI · independent
Constraint at this position
Conservation	phyloP 7.4	GERP -0.4, phastCons 1
Overall
CADD	62.0	PHRED · no single calibrated threshold — expert panels disagree

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

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: CD151
Protein: p.Gln117Ter
Coding: c.349C>T
MANE Select: NM_004357
dbSNP: rs2495978398
Type: single nucleotide variant
Location: chr11:836841 (GRCh38)
Gene constraint: LOEUF 0.816 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 88.02

Full CD151 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

RAPH BLOOD GROUP SYSTEM — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: epidermolysis bullosa simplex 7, with nephropathy and deafness

Similar variants

CD151 p.Lys7Ter Pathogenic ★★ same condition
CD151 c.352-11C>G Uncertain significance ★★ same condition
CD151 c.702+4A>G Uncertain significance ★★ same condition
CD151 c.702+5G>C Uncertain significance ★★ same condition
CD151 p.Ala145Thr Uncertain significance ★★ ⚠ same condition
CD151 p.Ala81Thr Uncertain significance ★★ ⚠ same condition
CD151 p.Arg133Cys Uncertain significance ★★ ⚠ same condition
CD151 p.Arg165Gln 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/cd151-p-gln117ter (accessed [today's date]).

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