Is RPL26 p.Ser32= (c.96C>T) pathogenic?

RPL26 p.Ser32= (c.96C>T) is classified Benign/Likely benign in RPL26 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2026-01-01). Very rare (popmax 0.00934%, afr); Associated with Diamond-Blackfan anemia 11.

What condition is associated with RPL26 p.Ser32= (c.96C>T)?

RPL26 p.Ser32= (c.96C>T) is associated with Diamond-Blackfan anemia 11, Diamond-Blackfan anemia (ClinVar).

How common is RPL26 p.Ser32= (c.96C>T) in the general population?

RPL26 p.Ser32= (c.96C>T) is very rare (popmax 0.00934%, afr) (gnomAD).

How is Diamond-Blackfan anemia inherited?

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

RPL26 p.Ser32=

c.96C>T · rs755369380 · VCV463369

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00934%, afr)

Conditions

Diamond-Blackfan anemia 11

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 -0.42	GERP -5.4, phastCons 0.002
Overall
CADD	10.11	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00934% African / African-American · 7/74,914 alleles

Filtering AF 0.00437% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00309%

Overall 0.00576% 93/1,613,760 alleles · very rare exomes 80/1,461,568 · genomes 13/152,192 · joint denominator

Ancestry group	Frequency	1 in
Ashkenazi Jewishnot grpmax-eligible	0.213%	470
Remaining individualsnot grpmax-eligible	0.0192%	5,206
African / African-Americangrpmax	0.00934%	10,702
South Asian	0.0011%	91,080
European (non-Finnish)	0.000848%	117,981

Ashkenazi Jewish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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: RPL26
Protein: p.Ser32=
Coding: c.96C>T
MANE Select: NM_000987
dbSNP: rs755369380
Type: single nucleotide variant
Location: chr17:8382215 (GRCh38)
Gene constraint: LOEUF 0.258 · pLI 0.99 (gnomAD)
Structure: AlphaFold pLDDT 92.77 · 186 PDB
Residue 32: a β-strand

Full RPL26 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Diamond-Blackfan anemia 11 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Diamond-Blackfan anemia

For Diamond-Blackfan anemia (Orphanet):

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

Similar variants

RPL26 c.-5-2A>G Likely pathogenic ★★ same condition
RPL26 p.Arg126His Uncertain significance ★★ ⚠ same condition
RPL26 c.168+17G>A Benign/Likely benign ★★ same condition
RPL26 p.Asn43Ser Likely benign ★★ ⚠ same condition
RPL26 p.Asp114= Likely benign ★★ same condition
RPL26 p.His100= Likely benign ★★ same condition
RPL26 p.His24= Likely benign ★★ same condition
RPL26 p.His96= Likely benign ★★ 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/rpl26-p-ser32 (accessed [today's date]).

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