Is MCIDAS p.Phe48= (c.144C>T) pathogenic?

MCIDAS p.Phe48= (c.144C>T) is classified Likely benign in MCIDAS (ClinVar, Single submitter, 1 submitter; last evaluated 2025-10-27). Ultra-rare (popmax 0.0165%, afr); Associated with primary ciliary dyskinesia.

What condition is associated with MCIDAS p.Phe48= (c.144C>T)?

MCIDAS p.Phe48= (c.144C>T) is associated with primary ciliary dyskinesia (ClinVar).

How common is MCIDAS p.Phe48= (c.144C>T) in the general population?

MCIDAS p.Phe48= (c.144C>T) is ultra-rare (popmax 0.0165%, afr) (gnomAD).

How is Primary ciliary dyskinesia inherited?

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

MCIDAS p.Phe48=

c.144C>T · rs1014552272 · VCV416335

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0165%, afr)

Conditions

primary ciliary dyskinesia

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 -0.86	GERP -2.1
Overall
CADD	0.698	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0165% African / African-American · 11/66,732 alleles

Filtering AF 0.00922% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00713%

Overall 0.00498% 71/1,426,158 alleles · ultra-rare exomes 60/1,273,934 · genomes 11/152,224 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.0165%	6,067
Admixed American	0.00839%	11,914
European (non-Finnish)	0.00511%	19,583
Remaining individualsnot grpmax-eligible	0.00182%	54,988

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: MCIDAS
Protein: p.Phe48=
Coding: c.144C>T
MANE Select: NM_001190787
dbSNP: rs1014552272
Type: single nucleotide variant
Location: chr5:55226908 (GRCh38)
Gene constraint: LOEUF 0.989 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 61.68 · 1 PDB
Residue 48: the 'necessary and sufficient for its degradation during the cell cycle' region

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

Disease context

primary ciliary dyskinesia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Primary ciliary dyskinesia (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Onset: Neonatal
Prevalence: 1-5 / 10 000 (Pakistan)

Similar variants

MCIDAS p.Leu335Ter Pathogenic/Likely pathogenic ★★ same condition
MCIDAS p.Ala228Ser Uncertain significance ★★ ⚠ same condition
MCIDAS p.Ala362Val Uncertain significance ★★ ⚠ same condition
MCIDAS p.Ala93Pro Uncertain significance ★★ ⚠ same condition
MCIDAS p.Arg285Thr Uncertain significance ★★ ⚠ same condition
MCIDAS p.Asp141Gly Uncertain significance ★★ ⚠ same condition
MCIDAS p.Pro364Arg Uncertain significance ★★ ⚠ same condition
MCIDAS p.Ser347Phe 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/mcidas-p-phe48 (accessed [today's date]).

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