Is RPL35A p.Cys47= (c.141C>T) pathogenic?

RPL35A p.Cys47= (c.141C>T) is classified Likely benign in RPL35A (ClinVar, Single submitter, 1 submitter; last evaluated 2025-04-28). Very rare (popmax 0.00267%, afr); Associated with Diamond-Blackfan anemia 5.

What condition is associated with RPL35A p.Cys47= (c.141C>T)?

RPL35A p.Cys47= (c.141C>T) is associated with Diamond-Blackfan anemia 5 (ClinVar).

How common is RPL35A p.Cys47= (c.141C>T) in the general population?

RPL35A p.Cys47= (c.141C>T) is very rare (popmax 0.00267%, afr) (gnomAD).

How is Diamond-Blackfan anemia inherited?

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

RPL35A p.Cys47=

c.141C>T · rs1440792535 · VCV1634337

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00267%, afr)

Conditions

Diamond-Blackfan anemia 5

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 2.8	phastCons 1
Overall
CADD	15.77	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00267% African / African-American · 2/74,886 alleles

Filtering AF 0.000443% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000166%

Overall 0.00031% 5/1,613,876 alleles · very rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00267%	37,443
East Asian	0.00223%	44,896
European (non-Finnish)	0.00017%	589,964

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: RPL35A
Protein: p.Cys47=
Coding: c.141C>T
MANE Select: NM_032263 · reported on NM_000996
dbSNP: rs1440792535
Type: single nucleotide variant
Location: chr3:197951288 (GRCh38)

Full RPL35A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Diamond-Blackfan anemia 5 — 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)

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/rpl35a-p-cys47 (accessed [today's date]).

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