Is RPS7 p.Val92= (c.276C>G) pathogenic?

RPS7 p.Val92= (c.276C>G) is classified Benign in RPS7 (ClinVar, Single submitter, 2 submitters; last evaluated 2025-05-22). Ultra-rare (popmax 0.0735%, eas); Associated with Diamond-Blackfan anemia 8.

What condition is associated with RPS7 p.Val92= (c.276C>G)?

RPS7 p.Val92= (c.276C>G) is associated with Diamond-Blackfan anemia 8 (ClinVar).

How common is RPS7 p.Val92= (c.276C>G) in the general population?

RPS7 p.Val92= (c.276C>G) is ultra-rare (popmax 0.0735%, eas) (gnomAD).

How is Diamond-Blackfan anemia inherited?

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

RPS7 p.Val92=

c.276C>G · rs61730448 · VCV1168152

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0735%, eas)

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 -7.6	GERP -4.4
Overall
CADD	1.686	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0735% East Asian · 33/44,876 alleles

Filtering AF 0.0538% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.047%

Overall 0.00242% 39/1,614,150 alleles · ultra-rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.0735%	1,360
Remaining individualsnot grpmax-eligible	0.0016%	62,508
South Asian	0.0011%	91,080
European (non-Finnish)	0.000339%	295,001

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.Val92=
Coding: c.276C>G
MANE Select: NM_001011
dbSNP: rs61730448
Type: single nucleotide variant
Location: chr2:3576615 (GRCh38)
Gene constraint: LOEUF 0.317 · pLI 1.00 · ClinGen HI 2/3 (gnomAD)
Structure: AlphaFold pLDDT 87.04 · 182 PDB
Residue 92: 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 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
RPS7 p.Asn12Ser 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-val92 (accessed [today's date]).

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