Is ABCD4 p.Met571fs (c.1713_1714del) pathogenic?

ABCD4 p.Met571fs (c.17131714del) is classified Uncertain significance in ABCD4 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2018-09-16). Absent from gnomAD.

How common is ABCD4 p.Met571fs (c.1713_1714del) in the general population?

ABCD4 p.Met571fs (c.1713_1714del) is absent from gnomAD (gnomAD).

ABCD4 p.Met571fs

c.1713_1714del · rs1566909565 · VCV591623

Uncertain significance No assertion criteria

Classification

Uncertain significance

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon within the last 50 nt of the penultimate exon (18 of 19, 38 nt from its 3' end) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 2.3, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: ABCD4
Protein: p.Met571fs
Coding: c.1713_1714del
MANE Select: NM_005050
dbSNP: rs1566909565
Type: Deletion
Location: chr14:74286739 (GRCh38)
Gene constraint: LOEUF 0.772 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.18 · 4 PDB
Residue 571: the abc transporter domain

Full ABCD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ABCD4 p.Ala237fs Likely pathogenic ★★ same type
ABCD4 p.Trp377fs Pathogenic ★★ same type
ABCD4 c.669-11_669-8del Benign ★★ same type
ABCD4 p.Arg125fs Pathogenic ★ same type
ABCD4 p.Arg432fs Pathogenic ★ same type
ABCD4 p.Gln101fs Likely pathogenic ★ same type
ABCD4 p.Gln215fs Pathogenic ★ same type
ABCD4 p.Gly183_Trp184insTer Pathogenic ★ 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/abcd4-p-met571fs (accessed [today's date]).

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