Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!

Variant: NM_000033.4(ABCD1):c.615G>A (p.Ala205=)

CA10549983

774266 (ClinVar)

Gene: ABCD1 (HGNC:215)
Condition: adrenoleukodystrophy (MONDO:0018544)
Inheritance Mode: X-linked inheritance
UUID: a928787f-f83a-496d-b6d2-18131bf1e0e3
Approved on: 2026-04-15
Published on: 2026-04-15

HGVS expressions

NM_000033.4(ABCD1):c.615G>A (p.Ala205=)
NM_000033.4:c.615G>A
NC_000023.11:g.153725881G>A
CM000685.2:g.153725881G>A
NC_000023.10:g.152991336G>A
CM000685.1:g.152991336G>A
NC_000023.9:g.152644530G>A
NG_009022.2:g.6014G>A
NG_023231.1:g.3866C>T
ENST00000218104.6:c.615G>A
ENST00000218104.5:c.615G>A
ENST00000370129.4:c.60G>A
NM_000033.3:c.615G>A
More

Benign

Met criteria codes 3
BA1 BP4 BP7
Not Met criteria codes 6
BP2 BP5 BS2 BS4 BS3 PS3

Evidence Links 0

Expert Panel

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 NM_000033.4(ABCD1):c.615G>A (p.Ala205=) variant is a synonymous variant that is outside of the splice region and not predicted by SpliceAI to impact splicing (BP4, BP7). The GrpMax filtering allele frequency of the c.615G>A variant in ABCD1 is 0.002175, gnomAD v4.1, which is higher than the ClinGen Peroxisomal Disorders VCEP threshold of ≥0.00017 for BA1, and therefore meets this criterion (BA1). In summary, this variant meets the criteria to be classified as benign for X-linked adrenoleukodystrophy based on the ACMG/AMP criteria applied, as specified by the ClinGen Peroxisomal Disorders VCEP: BA1, BP4, BP7 (ClinGen Peroxisomal Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ABCD1 Version 1.0.0)
Met criteria codes
BA1
The GrpMax filtering allele frequency of the c.615G>A variant in ABCD1 is 0.002175, gnomAD v4.1, which is higher than the ClinGen Peroxisomal Disorders VCEP threshold of ≥0.00017 for BA1, and therefore meets this criterion (BA1).
BP4
The computational splicing predictor SpliceAI gives a score of 0 (threshold ≤0.1) suggesting that the variant has no impact on splicing (BP4).
BP7
The NM_000033.4(ABCD1):c.615G>A (p.Ala205=) variant is a synonymous variant that is outside of the splice region and not predicted by SpliceAI to impact splicing (BP4, BP7).
Not Met criteria codes
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
more than 10 hemizygous healthy adult males per gnomAD but affected status can not be confirmed
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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