Is RPS10 p.Ala144= (c.432T>G) pathogenic?

RPS10 p.Ala144= (c.432T>G) is classified Benign/Likely benign in RPS10 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-12-09). Ultra-rare (popmax 0.065%, amr); Associated with Diamond-Blackfan anemia.

What condition is associated with RPS10 p.Ala144= (c.432T>G)?

RPS10 p.Ala144= (c.432T>G) is associated with Diamond-Blackfan anemia, Diamond-Blackfan anemia 9 (ClinVar).

How common is RPS10 p.Ala144= (c.432T>G) in the general population?

RPS10 p.Ala144= (c.432T>G) is ultra-rare (popmax 0.065%, amr) (gnomAD).

How is Diamond-Blackfan anemia inherited?

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

RPS10 p.Ala144=

c.432T>G · rs199758134 · VCV906570

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.065%, amr)

Conditions

Diamond-Blackfan anemia

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 2.2	GERP -0.17, phastCons 1
Overall
CADD	9.643	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.065% Admixed American · 39/60,006 alleles

Filtering AF 0.0488% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0432%

Overall 0.00353% 57/1,614,208 alleles · ultra-rare exomes 48/1,461,888 · genomes 9/152,320 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.065%	1,539
Remaining individualsnot grpmax-eligible	0.0048%	20,837
European (non-Finnish)	0.00127%	78,669

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: RPS10
Protein: p.Ala144=
Coding: c.432T>G
MANE Select: NM_001014
dbSNP: rs199758134
Type: single nucleotide variant
Location: chr6:34418393 (GRCh38)

Full RPS10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

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

Also linked: Diamond-Blackfan anemia 9

For Diamond-Blackfan anemia (Orphanet):

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

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/rps10-p-ala144 (accessed [today's date]).

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