Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000033.4(ABCD1):c.21C>T (p.Pro7=)

CA519210960

1135384 (ClinVar)

Gene: ABCD1 (HGNC:215)

Condition: adrenoleukodystrophy (MONDO:0018544)

Inheritance Mode: X-linked inheritance (recessive (HP:0001419))

UUID: e0a3a529-4118-4672-a494-cb50bb2c6202

Approved on: 2026-04-16

Published on: 2026-04-16

HGVS expressions

NM_000033.4:c.21C>T

NM_000033.4(ABCD1):c.21C>T (p.Pro7=)

NC_000023.11:g.153725287C>T

CM000685.2:g.153725287C>T

NC_000023.10:g.152990742C>T

CM000685.1:g.152990742C>T

NC_000023.9:g.152643936C>T

NG_009022.2:g.5420C>T

NG_023231.1:g.4460G>A

ENST00000218104.6:c.21C>T

ENST00000218104.5:c.21C>T

NM_000033.3:c.21C>T

Likely Benign

BP7 BP4 PM2_Supporting

Evidence Links 0

Expert Panel

Peroxisomal Disorders VCEP

Criteria Specification Information

Criteria Specification: ClinGen Peroxisomal Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ABCD1 Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Peroxisomal Disorders VCEP

The c.21C>T (p.Pro7=) variant is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing (score of 0.00 for donor/acceptor loss) (BP4, BP7). This variant is absent from gnomAD v2.1.1, v3.1.2, and v4.0.0 (PM2_Supporting). In summary, the Peroxisomal Disorders VCEP classified the variant as likely benign using the ACMG criteria applied, as specified by the ClinGen Peroxisomal Disorders VCEP: PM2_Supporting, BP4, BP7 (ClinGen Peroxisomal Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ABCD1 Version 1.0.0)

BP7

The c.21C>T (p.Pro7=) variant is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing (score of 0.00 for donor/acceptor loss). Conservation is not considered in the BP7 code per the Walker et al guidance.

BP4

The computational splicing predictor SpliceAI gives a score of 0.0 for donor/acceptor loss suggesting that the variant has no impact on splicing (BP4).

PM2_Supporting

This variant is absent from gnomAD v2.1.1, v3.1.2, and v4.0.0 (PM2_Supporting).

Curation History

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