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NM_001134831.2(AHI1):c.910dup (p.Thr304fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4
First in ClinVar:
Nov 9, 2015
Most recent Submission:
May 16, 2022
Last evaluated:
Sep 9, 2021
Accession:
VCV000217536.7
Variation ID:
217536
Description:
1bp duplication
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NM_001134831.2(AHI1):c.910dup (p.Thr304fs)

Allele ID
214256
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135463145-135463146 (GRCh38) GRCh38 UCSC
6: 135784283-135784284 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001134831.2:c.910dup MANE Select NP_001128303.1:p.Thr304fs frameshift
NM_001134831.2:c.910dupA MANE Select
NM_001134830.2:c.910dup NP_001128302.1:p.Thr304fs frameshift
... more HGVS
Protein change
T304fs
Other names
-
Canonical SPDI
NC_000006.12:135463145:TTTTTTTT:TTTTTTTTT
Functional consequence
loss_of_function_variant [Sequence Ontology SO:0002054]
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA277772
dbSNP: rs753874898
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Jul 15, 2020 RCV000201689.4
Pathogenic 1 criteria provided, single submitter Sep 9, 2021 RCV001226946.3
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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
893 910

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Feb 23, 2015)
criteria provided, single submitter
Method: research
Joubert syndrome 3
Affected status: yes
Allele origin: unknown
UW Hindbrain Malformation Research Program,University of Washington
Additional submitter:
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV000256261.1
First in ClinVar: Nov 09, 2015
Last updated: Nov 09, 2015
Publications:
PubMed (1)
PubMed: 26092869
Pathogenic
(Jul 15, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 3
(Autosomal recessive inheritance)
Affected status: yes
Allele origin: germline
Breda Genetics srl
Accession: SCV001422498.1
First in ClinVar: Sep 03, 2020
Last updated: Sep 03, 2020
Comment:
The variant c.910dupA (p.Thr304Asnfs*6) is reported as pathogenic for Joubert syndrome 3 in ClinVar (Variation ID: 217536). The variant creates a shift in the reading … (more)
Pathogenic
(Mar 01, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 3
(Autosomal recessive inheritance)
Affected status: yes
Allele origin: biparental
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001443009.1
First in ClinVar: Nov 14, 2020
Last updated: Nov 14, 2020
Comment:
Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1,PM2,PM3
Clinical Features:
severe ID (present) , muscular hypotonia (present) , short stature (present)
Pathogenic
(Sep 09, 2021)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001399278.3
First in ClinVar: Jul 16, 2020
Last updated: May 16, 2022
Publications:
PubMed (5)
Comment:
This sequence change creates a premature translational stop signal (p.Thr304Asnfs*6) in the AHI1 gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

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Functional consequence Method Result Submitter Supporting information
loss_of_function_variant
Breda Genetics srl
Accession: SCV001422498.1
Submitted: (Sep 01, 2020)
Evidence details

Citations for this variant

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Title Author Journal Year Link
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. Porto FBO Genes 2017 PMID: 29186038
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
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Valente EM Annals of neurology 2006 PMID: 16453322
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Ferland RJ Nature genetics 2004 PMID: 15322546

Text-mined citations for rs753874898...

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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 Jul 02, 2022