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 cryptic splice donor site. Several splice site mutations in the AHI1 gene have been described as the cause of Joubert's syndrome. According to the current state of knowledge, this is a probably pathogenic mutation (class IV).
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Likely pathogenic
- Review status:
- criteria provided, single submitter
- Submissions:
- 1
- First in ClinVar:
- Aug 1, 2020
- Most recent Submission:
- Aug 1, 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
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001134831.2:c.1148A>G MANE Select NP_001128303.1:p.Asp383Gly missense NM_001134830.2:c.1148A>G NP_001128302.1:p.Asp383Gly missense NM_001134832.2:c.1148A>G NP_001128304.1:p.Asp383Gly missense NM_001350503.2:c.1148A>G NP_001337432.1:p.Asp383Gly missense NM_001350504.2:c.1148A>G NP_001337433.1:p.Asp383Gly missense NM_017651.5:c.1148A>G NP_060121.3:p.Asp383Gly missense NC_000006.12:g.135457497T>C NC_000006.11:g.135778635T>C NG_008643.2:g.45269A>G - 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 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Likely pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Joubert syndrome 3
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
Accession: SCV001364068.1
First in ClinVar: Aug 01, 2020 Last updated: Aug 01, 2020 |
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)
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 cryptic splice donor site. Several splice site mutations in the AHI1 gene have been described as the cause of Joubert's syndrome. According to the current state of knowledge, this is a probably pathogenic mutation (class IV). (less)
Clinical Features:
Global developmental delay (present) , Nystagmus (present) , Infantile muscular hypotonia (present) , Abnormality of the clitoris (present) , Cerebellar ataxia (present)
Zygosity: 1 Homozygote
|
Functional evidence
Help| Functional consequence | Method | Result | Submitter | Supporting information
(See all) |
|---|---|---|---|---|
|
functionally_abnormal
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
Accession: SCV001364068.1
Submitted: (Jun 21, 2020)
|
|
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 rs1789162289...
HelpThese 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 Apr 25, 2022