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NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
Jun 5, 2020
Accession:
VCV000217532.8
Variation ID:
217532
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)

Allele ID
214231
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135427244 (GRCh38) GRCh38 UCSC
6: 135748382 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.135748382T>C
NM_017651.4:c.2687A>G NP_060121.3:p.His896Arg missense
NC_000006.12:g.135427244T>C
... more HGVS
Protein change
H896R
Other names
-
Canonical SPDI
NC_000006.12:135427243:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA279374
UniProtKB: Q8N157#VAR_076822
dbSNP: rs863225135
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Feb 23, 2015 RCV000201566.1
Pathogenic 1 criteria provided, single submitter Jul 1, 2017 RCV001091216.2
Uncertain significance 1 criteria provided, single submitter Jun 5, 2020 RCV001240194.2
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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: SCV000256257.1
Submitted: (Sep 16, 2015)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Jun 05, 2020)
criteria provided, single submitter
Method: clinical testing
Agenesis of cerebellar vermis
Allele origin: germline
Invitae
Accession: SCV001413119.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces histidine with arginine at codon 896 of the AHI1 protein (p.His896Arg). The histidine residue is moderately conserved and there is a … (more)
Pathogenic
(Jul 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001247114.6
Submitted: (Jul 04, 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
Missense mutations in the WD40 domain of <i>AHI1</i> cause non-syndromic retinitis pigmentosa. Nguyen TT Journal of medical genetics 2017 PMID: 28442542
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Bachmann-Gagescu R Journal of medical genetics 2015 PMID: 26092869
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. Parisi MA Journal of medical genetics 2006 PMID: 16155189

Text-mined citations for rs863225135...

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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