Is CFAP52 p.Asp385= (c.1155C>T) pathogenic?

CFAP52 p.Asp385= (c.1155C>T) is classified Benign in CFAP52 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2020-06-17). Rare (popmax 0.706%, afr); Associated with situs inversus.

What condition is associated with CFAP52 p.Asp385= (c.1155C>T)?

CFAP52 p.Asp385= (c.1155C>T) is associated with situs inversus (ClinVar).

How common is CFAP52 p.Asp385= (c.1155C>T) in the general population?

CFAP52 p.Asp385= (c.1155C>T) is rare (popmax 0.706%, afr) (gnomAD).

CFAP52 p.Asp385=

c.1155C>T · rs145951373 · VCV2027906

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

rare (popmax 0.706%, afr)

Conditions

situs inversus

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 -20	GERP -3.5
Overall
CADD	0.118	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.706% African / African-American · 530/75,036 alleles

Filtering AF 0.657% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.637%

Overall 0.0581% 937/1,614,084 alleles · rare exomes 654/1,461,856 · genomes 283/152,228 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.706%	142
Remaining individualsnot grpmax-eligible	0.0784%	1,276
Middle Eastern	0.033%	3,031
European (non-Finnish)	0.0279%	3,587
Admixed American	0.02%	5,000
East Asian	0.0178%	5,609
South Asian	0.00659%	15,179
Ashkenazi Jewishnot grpmax-eligible	0.00338%	29,608

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: CFAP52
Protein: p.Asp385=
Coding: c.1155C>T
MANE Select: NM_145054
dbSNP: rs145951373
Type: single nucleotide variant
Location: chr17:9628801 (GRCh38)
Gene constraint: LOEUF 1.022 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 93.59 · 2 PDB

Full CFAP52 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

situs inversus — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CFAP52 p.Ala147Thr Uncertain significance ★★ ⚠ same condition
CFAP52 p.Ala161Asp Uncertain significance ★★ ⚠ same condition
CFAP52 p.Arg170Gln Uncertain significance ★★ ⚠ same condition
CFAP52 p.Arg594Cys Uncertain significance ★★ ⚠ same condition
CFAP52 p.Gly343Ser Uncertain significance ★★ ⚠ same condition
CFAP52 p.Gly534Ala Uncertain significance ★★ same condition
CFAP52 p.Met551Thr Uncertain significance ★★ ⚠ same condition
CFAP52 p.Tyr41His 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/cfap52-p-asp385 (accessed [today's date]).

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