Is ABCB1 p.Phe204= (c.612T>C) pathogenic?

ABCB1 p.Phe204= (c.612T>C) is classified Likely benign in ABCB1 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-09-26). Absent from gnomAD v4.1; Associated with ABCB1-related disorder.

What condition is associated with ABCB1 p.Phe204= (c.612T>C)?

ABCB1 p.Phe204= (c.612T>C) is associated with ABCB1-related disorder (ClinVar).

How common is ABCB1 p.Phe204= (c.612T>C) in the general population?

ABCB1 p.Phe204= (c.612T>C) is absent from gnomAD v4.1 (gnomAD).

ABCB1 p.Phe204=

c.612T>C · rs1817775401 · VCV3040400

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

ABCB1-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 0.49	GERP -3.2, phastCons 0.73
Overall
CADD	7.877	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ABCB1
Protein: p.Phe204=
Coding: c.612T>C
MANE Select: NM_001348946
dbSNP: rs1817775401
Type: single nucleotide variant
Location: chr7:87566160 (GRCh38)
Gene constraint: LOEUF 0.575 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 84.72 · 24 PDB
Residue 204: the abc transmembrane type-1 1 domain; an α-helix

Full ABCB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ABCB1-related disorder

Similar variants

ABCB1 p.Phe204Leu Uncertain significance ★ ⚠ same residue
ABCB1 p.Ile849Thr Uncertain significance ⚠ same condition
ABCB1 c.1887+4T>G Likely benign same condition
ABCB1 c.2397+8T>A Likely benign same condition
ABCB1 c.2786+9C>T Likely benign same condition
ABCB1 c.338+5T>C Likely benign same condition
ABCB1 c.702+9A>T Likely benign same condition
ABCB1 c.-43A>G 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/abcb1-p-phe204 (accessed [today's date]).

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