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NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2
First in ClinVar:
Nov 9, 2015
Most recent Submission:
Nov 29, 2021
Last evaluated:
Feb 23, 2015
Accession:
VCV000217540.2
Variation ID:
217540
Description:
10bp deletion
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NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs)

Allele ID
214236
Variant type
Deletion
Variant length
10 bp
Cytogenetic location
6q23.3
Genomic location
6: 135433097-135433106 (GRCh38) GRCh38 UCSC
6: 135754235-135754244 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001134831.2:c.2187_2196del MANE Select NP_001128303.1:p.Met729fs frameshift
NM_001134830.2:c.2187_2196del NP_001128302.1:p.Met729fs frameshift
NM_001134832.2:c.2187_2196del NP_001128304.1:p.Met729fs frameshift
... more HGVS
Protein change
M729fs
Other names
-
Canonical SPDI
NC_000006.12:135433096:ATCTTCTCTCATCT:ATCT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA279410
dbSNP: rs863225140
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Feb 23, 2015 RCV000201613.2
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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
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: SCV000256266.1
First in ClinVar: Nov 09, 2015
Last updated: Nov 09, 2015
Publications:
PubMed (1)
PubMed: 26092869
Pathogenic
(Nov 13, 2019)
no assertion criteria provided
Method: clinical testing
Joubert syndrome 3
Affected status: unknown
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002021172.1
First in ClinVar: Nov 29, 2021
Last updated: Nov 29, 2021

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 rs863225140...

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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 Apr 25, 2022