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NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 31, 2021)
Last evaluated:
May 28, 2019
Accession:
VCV000218423.3
Variation ID:
218423
Description:
single nucleotide variant
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NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)

Allele ID
215620
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 153743029 (GRCh38) GRCh38 UCSC
X: 153008483 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.153008483G>A
NC_000023.11:g.153743029G>A
NG_009022.2:g.23162G>A
... more HGVS
Protein change
G608D
Other names
-
Canonical SPDI
NC_000023.11:153743028:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00835
Links
ClinGen: CA249262
UniProtKB: P33897#VAR_013355
dbSNP: rs78993751
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Feb 13, 2015 RCV000203059.1
Benign 1 criteria provided, single submitter May 28, 2019 RCV000990979.1
Uncertain significance 1 no assertion criteria provided - RCV001358088.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCD1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
738 964

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Feb 13, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000257604.2
Submitted: (Aug 10, 2015)
Evidence details
Benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Adrenoleukodystrophy
Allele origin: unknown
Mendelics
Accession: SCV001142059.1
Submitted: (Oct 22, 2019)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001553737.1
Submitted: (Mar 31, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs78993751...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021