Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 28, 2021)
Last evaluated:
Oct 29, 2020
Accession:
VCV000589881.6
Variation ID:
589881
Description:
15bp deletion
Help

NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)

Allele ID
581077
Variant type
Deletion
Variant length
15 bp
Cytogenetic location
Xp21.3
Genomic location
X: 25013530-25013544 (GRCh38) GRCh38 UCSC
X: 25031647-25031661 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.25031656_25031670del
NC_000023.11:g.25013539_25013553del
NG_008281.1:g.7405_7419del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:25013529:GGCCGCGGCGGCCGCGGCCGCGGC:GGCCGCGGC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs757588621
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jan 25, 2019 RCV000720263.1
Likely benign 2 criteria provided, single submitter Apr 24, 2019 RCV000722715.2
Likely benign 1 criteria provided, single submitter Oct 29, 2020 RCV001504893.1
Uncertain significance 1 criteria provided, single submitter Jun 12, 2018 RCV001253636.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARX Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
318 563
LOC109610631 - - - GRCh38 - 159

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 25, 2019)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000851140.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Does not segregate in family study ;Does not segregate with disease in family study (genes with incomplete penetrance);Other data supporting benign classification
Uncertain significance
(Jun 12, 2018)
criteria provided, single submitter
Method: clinical testing
Epileptic encephalopathy, early infantile, 1
Allele origin: germline
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001429465.1
Submitted: (Apr 20, 2020)
Evidence details
Likely benign
(Oct 29, 2020)
criteria provided, single submitter
Method: clinical testing
Epileptic encephalopathy, early infantile, 1
Mental retardation, with or without seizures, ARX-related, X-linked
Allele origin: germline
Invitae
Accession: SCV001709779.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 24, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001945450.1
Submitted: (Sep 28, 2021)
Evidence details
Uncertain significance
(Sep 16, 2018)
no assertion criteria provided
Method: research
not provided
Allele origin: germline
Gharavi Laboratory,Columbia University
Accession: SCV000853846.1
Submitted: (Oct 08, 2018)
Evidence details

Functional evidence

Help
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

Help
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 rs757588621...

Help
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