Is CBARP p.Leu205= (c.615G>A) pathogenic?

CBARP p.Leu205= (c.615G>A) is classified Likely benign in CBARP (ClinVar, Single submitter, 1 submitter; last evaluated 2025-02-19). Very rare (popmax 0.00224%, eas).

How common is CBARP p.Leu205= (c.615G>A) in the general population?

CBARP p.Leu205= (c.615G>A) is very rare (popmax 0.00224%, eas) (gnomAD).

CBARP p.Leu205=

c.615G>A · VCV3827762

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00224%, eas)

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 -0.64	GERP -1.7, phastCons 0.001
Overall
CADD	0.402	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00224% East Asian · 1/44,564 alleles

Overall 6.88e-05% 1/1,452,746 alleles · very rare

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: CBARP
Protein: p.Leu205=
Coding: c.615G>A
MANE Select: NM_001393918
Type: single nucleotide variant
Location: chr19:1234583 (GRCh38)
Gene constraint: LOEUF 1.107 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 52.23

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

Similar variants

CBARP p.Arg535= Likely benign ★★ same type
CBARP c.1154+114C>G Uncertain significance ★ same type
CBARP c.1154+126G>T Uncertain significance ★ same type
CBARP c.1154+36C>G Uncertain significance ★ same type
CBARP c.1154+45C>T Uncertain significance ★ same type
CBARP c.1154+80G>A Uncertain significance ★ same type
CBARP c.1154+87C>T Uncertain significance ★ same type
CBARP p.Ala19Val Uncertain significance ★ ⚠ same type

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/cbarp-p-leu205 (accessed [today's date]).

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