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NM_000033.4(ABCD1):c.1393+1G>A AND Adrenoleukodystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 6, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003066404.2

Allele description [Variation Report for NM_000033.4(ABCD1):c.1393+1G>A]

NM_000033.4(ABCD1):c.1393+1G>A

Gene:
ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000033.4(ABCD1):c.1393+1G>A
HGVS:
  • NC_000023.11:g.153736514G>A
  • NG_009022.2:g.16647G>A
  • NM_000033.4:c.1393+1G>AMANE SELECT
  • LRG_1017t1:c.1393+1G>A
  • LRG_1017:g.16647G>A
  • NC_000023.10:g.153001968G>A
Molecular consequence:
  • NM_000033.4:c.1393+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Adrenoleukodystrophy (ALD)
Synonyms:
ADDISON DISEASE AND CEREBRAL SCLEROSIS; BRONZE SCHILDER DISEASE; MELANODERMIC LEUKODYSTROPHY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018544; MedGen: C0162309; OMIM: 300100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003443992Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 6, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.

Hung KL, Wang JS, Keng WT, Chen HJ, Liang JS, Ngu LH, Lu JF.

Pediatr Neurol. 2013 Sep;49(3):185-90. doi: 10.1016/j.pediatrneurol.2013.04.021. Epub 2013 Jul 5.

PubMed [citation]
PMID:
23835273

Aberrant brain activation of error processing among adults with attention deficit and hyperactivity disorder.

Chen CY, Yen JY, Yen CF, Chen CS, Liu GC, Liang CY, Ko CH.

Kaohsiung J Med Sci. 2015 Apr;31(4):179-87. doi: 10.1016/j.kjms.2015.01.001. Epub 2015 Feb 3.

PubMed [citation]
PMID:
25835273
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV003443992.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change affects a donor splice site in intron 4 of the ABCD1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in activation of a cryptic splice site and introduces a premature termination codon (PMID: 23835273, 28601575). The resulting mRNA is expected to undergo nonsense-mediated decay. This variant is also known as 1272+1G>A. Disruption of this splice site has been observed in individual(s) with X-linked adrenoleukodystrophy (PMID: 25835273, 28601575). This variant is not present in population databases (gnomAD no frequency).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024