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NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 21, 2020)
Accession:
VCV000973758.1
Variation ID:
973758
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)

Allele ID
962050
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135457497 (GRCh38) GRCh38 UCSC
6: 135778635 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_017651.4:c.1148A>G NP_060121.3:p.Asp383Gly missense
NC_000006.11:g.135778635T>C
NC_000006.12:g.135457497T>C
... more HGVS
Protein change
D383G
Other names
-
Canonical SPDI
NC_000006.12:135457496:T:C
Functional consequence
functionally_abnormal [Sequence Ontology SO:0002218]
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1789162289
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter - RCV001250414.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 3
(Autosomal recessive inheritance)
Allele origin: germline
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
Accession: SCV001364068.1
Submitted: (Jun 21, 2020)
Evidence details
Comment:
We could detect the variant c.1148A>G in the AHI1 gene in your patient in a homozygous state. Bioinformatic prediction programs predict the activation of a … (more)

Functional evidence

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Functional consequence Method Result Submitter Supporting information
functionally_abnormal
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
Accession: SCV001364068.1
Submitted: (Jun 21, 2020)
Evidence details

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 rs1789162289...

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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