Is CEP170B p.Ile271= (c.813C>T) pathogenic?

CEP170B p.Ile271= (c.813C>T) is classified Benign in CEP170B (ClinVar, No assertion criteria, 1 submitter; last evaluated 2020-02-17). Low-frequency (popmax 2.33%, afr); Associated with CEP170B-related disorder.

What condition is associated with CEP170B p.Ile271= (c.813C>T)?

CEP170B p.Ile271= (c.813C>T) is associated with CEP170B-related disorder (ClinVar).

How common is CEP170B p.Ile271= (c.813C>T) in the general population?

CEP170B p.Ile271= (c.813C>T) is low-frequency (popmax 2.33%, afr) (gnomAD).

CEP170B p.Ile271=

c.813C>T · rs7147858 · VCV3038796

Benign No assertion criteria

Classification

Benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

low-frequency (popmax 2.33%, afr)

Conditions

CEP170B-related disorder

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 -4.6	GERP -3.6
Overall
CADD	4.971	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.33% African / African-American · 1,742/74,738 alleles

Filtering AF 2.24% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.2%

Overall 0.131% 2,105/1,611,730 alleles · low-frequency

Ancestry group	Frequency	1 in
African / African-Americangrpmax	2.33%	43
Admixed American	0.24%	416
Remaining individualsnot grpmax-eligible	0.208%	480
Middle Eastern	0.182%	551
South Asian	0.0242%	4,135
European (non-Finnish)	0.00466%	21,448
East Asian	0.00223%	44,836

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: CEP170B
Protein: p.Ile271=
Coding: c.813C>T
MANE Select: NM_001112726
dbSNP: rs7147858
Type: single nucleotide variant
Location: chr14:104883270 (GRCh38)
Gene constraint: LOEUF 0.682 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 47.31

Full CEP170B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

CEP170B-related disorder

Similar variants

CEP170B c.3879-7G>C Benign same condition
CEP170B c.3879-8G>A Benign same condition
CEP170B c.4271+8G>A Likely benign same condition
CEP170B c.4365+7G>A Likely benign same condition
CEP170B p.Ala1177= Likely benign same condition
CEP170B p.Ala127= Likely benign same condition
CEP170B p.Ala302Val Likely benign same condition
CEP170B p.Ala369Val 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/cep170b-p-ile271 (accessed [today's date]).

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