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NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 7, 2020
Accession:
VCV000217548.3
Variation ID:
217548
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)

Allele ID
214244
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135438414 (GRCh38) GRCh38 UCSC
6: 135759552 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.135759552T>A
NC_000006.12:g.135438414T>A
NG_008643.2:g.64352A>T
... more HGVS
Protein change
D666V
Other names
-
Canonical SPDI
NC_000006.12:135438413:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA279428
dbSNP: rs863225147
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 RCV000201632.1
Likely pathogenic 1 criteria provided, single submitter Dec 3, 2015 RCV000414742.1
Pathogenic 1 criteria provided, single submitter Oct 7, 2020 RCV001051208.2
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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
633 648

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: SCV000256275.1
Submitted: (Sep 16, 2015)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Dec 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000491090.1
Submitted: (Dec 21, 2016)
Evidence details
Comment:
p.Asp666Val (D666V) (GAT>GTT): c.1997 A>T in exon 14 of the AHI1 gene (NM_017651.4) The D666V variant has not been published as a pathogenic variant, nor … (more)
Pathogenic
(Oct 07, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome
Allele origin: germline
Invitae
Accession: SCV001215351.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces aspartic acid with valine at codon 666 of the AHI1 protein (p.Asp666Val). The aspartic acid residue is moderately conserved and there … (more)

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
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Bachmann-Gagescu R Journal of medical genetics 2015 PMID: 26092869

Text-mined citations for rs863225147...

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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 Dec 04, 2021