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NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Sep 30, 2021)
Last evaluated:
Jul 6, 2020
Accession:
VCV000156382.6
Variation ID:
156382
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)

Allele ID
166163
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135433119 (GRCh38) GRCh38 UCSC
6: 135754257 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.135754257C>T
NC_000006.12:g.135433119C>T
NG_008643.2:g.69647G>A
... more HGVS
Protein change
W725*
Other names
-
Canonical SPDI
NC_000006.12:135433118:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA270780
dbSNP: rs587783013
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Oct 17, 2017 RCV000144464.3
Pathogenic 1 criteria provided, single submitter Jul 6, 2020 RCV001262092.1
Pathogenic 1 no assertion criteria provided Sep 1, 2016 RCV000678521.1
Pathogenic 4 no assertion criteria provided - RCV001698972.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AHI1 - - GRCh38
GRCh37
632 647

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 23, 2015)
criteria provided, single submitter
Method: research
Joubert syndrome 3
Allele origin: unknown
UW Hindbrain Malformation Research Program,University of Washington
Additional submitter:
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV000256272.1
Submitted: (Sep 16, 2015)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Oct 17, 2017)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915147.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (4)
Comment:
The AHI1 c.2174G>A (p.Trp725Ter) stop-gained variant has been reported in at least four studies and is found in a compound heterozygous state in three individuals … (more)
Pathogenic
(Jul 06, 2020)
criteria provided, single submitter
Method: clinical testing
Leber congenital amaurosis
(Autosomal recessive inheritance)
Allele origin: germline
Institute of Vision Research, Yonsei University College of Medicine
Accession: SCV001370768.1
Submitted: (Oct 27, 2020)
Evidence details
Publications
PubMed (1)
Pathogenic
(Sep 18, 2014)
no assertion criteria provided
Method: clinical testing
Joubert syndrome 3
Allele origin: unknown
Molecular Diagnostics Laboratory,Seoul National University Hospital
Accession: SCV000189598.1
Submitted: (Sep 19, 2014)
Evidence details
Pathogenic
(Sep 01, 2016)
no assertion criteria provided
Method: clinical testing
Retinitis pigmentosa
Allele origin: inherited
Human Genetics - Radboudumc,Radboudumc
Accession: SCV000804593.2
Submitted: (Sep 14, 2016)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001921644.1
Submitted: (Sep 23, 2021)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001930362.1
Submitted: (Sep 23, 2021)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001954328.1
Submitted: (Sep 30, 2021)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001969293.1
Submitted: (Sep 21, 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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Title Author Journal Year Link
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis. Surl D Molecular vision 2020 PMID: 32165824
Missense mutations in the WD40 domain of <i>AHI1</i> cause non-syndromic retinitis pigmentosa. Nguyen TT Journal of medical genetics 2017 PMID: 28442542
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. Enokizono M Journal of the neurological sciences 2017 PMID: 28431631
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Bachmann-Gagescu R Journal of medical genetics 2015 PMID: 26092869
Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity. Seong MW The Journal of molecular diagnostics : JMD 2015 PMID: 25445212

Text-mined citations for rs587783013...

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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