Is RPS7 p.Phe94= (c.282T>C) pathogenic?

RPS7 p.Phe94= (c.282T>C) is classified Likely benign in RPS7 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-12-12). Very rare (popmax 0.000169%, nfe); Associated with Diamond-Blackfan anemia 8.

What condition is associated with RPS7 p.Phe94= (c.282T>C)?

RPS7 p.Phe94= (c.282T>C) is associated with Diamond-Blackfan anemia 8 (ClinVar).

How common is RPS7 p.Phe94= (c.282T>C) in the general population?

RPS7 p.Phe94= (c.282T>C) is very rare (popmax 0.000169%, nfe) (gnomAD).

How is Diamond-Blackfan anemia inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

RPS7 p.Phe94=

c.282T>C · VCV3630331

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.000169%, nfe)

Conditions

Diamond-Blackfan anemia 8

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 -1.8	GERP -4.4
Overall
CADD	4.688	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.000169% European (non-Finnish) · 2/1,180,034 alleles

Filtering AF 2.8e-05% ClinGen BA1/BS1 input FAF95, joint · FAF99 1.1e-05%

Overall 0.000124% 2/1,614,216 alleles · very rare exomes 2/1,461,880 · genomes 0/152,336 · joint denominator

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: RPS7
Protein: p.Phe94=
Coding: c.282T>C
MANE Select: NM_001011
Type: single nucleotide variant
Location: chr2:3576621 (GRCh38)
Gene constraint: LOEUF 0.317 · pLI 1.00 · ClinGen HI 2/3 (gnomAD)
Structure: AlphaFold pLDDT 87.04 · 182 PDB
Residue 94: a β-strand

Full RPS7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Diamond-Blackfan anemia 8 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Diamond-Blackfan anemia (Orphanet):

Inheritance: Autosomal dominant
Onset: Childhood, Infancy, Neonatal
Prevalence: 1-9 / 1 000 000 (Europe)

Similar variants

RPS7 p.Phe94Leu Uncertain significance ★ ⚠ same residue
RPS7 c.75+1G>A Pathogenic ★★ same condition
RPS7 c.356+6T>C Uncertain significance ★★ same condition
RPS7 c.-27C>T Uncertain significance ★★ same condition
RPS7 p.Ala26Val Uncertain significance ★★ ⚠ same condition
RPS7 p.Ala38Val Uncertain significance ★★ ⚠ same condition
RPS7 p.Arg145His Uncertain significance ★★ ⚠ same condition
RPS7 p.Arg152Pro 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/rps7-p-phe94 (accessed [today's date]).

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