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NM_001134831.2(AHI1):c.3426+13G>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Sep 30, 2021)
Last evaluated:
Jul 14, 2021
Accession:
VCV000095757.9
Variation ID:
95757
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.3426+13G>A

Allele ID
101654
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135318506 (GRCh38) GRCh38 UCSC
6: 135639644 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.12:g.135318506C>T
NG_008643.2:g.184260G>A
NM_001134830.2:c.3426+13G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:135318505:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.40515 (C)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.58313
Trans-Omics for Precision Medicine (TOPMed) 0.59474
1000 Genomes Project 0.59485
Exome Aggregation Consortium (ExAC) 0.62864
The Genome Aggregation Database (gnomAD) 0.58527
The Genome Aggregation Database (gnomAD), exomes 0.58797
Links
ClinGen: CA148805
dbSNP: rs6914831
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 5 criteria provided, multiple submitters, no conflicts Mar 2, 2015 RCV000081800.8
Benign 3 criteria provided, multiple submitters, no conflicts Jul 14, 2021 RCV000605287.3
Benign 1 criteria provided, single submitter Dec 8, 2020 RCV001520433.1
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001618256.3
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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
626 641

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 02, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000113735.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000312892.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000460475.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Agenesis of cerebellar vermis
Allele origin: germline
Invitae
Accession: SCV001729527.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 14, 2021)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 3
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001768850.1
Submitted: (Aug 04, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001842809.1
Submitted: (Sep 09, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
Joubert syndrome 3
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000734477.1
Submitted: (Apr 04, 2018)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001931948.1
Submitted: (Sep 23, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001959316.1
Submitted: (Sep 30, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001968178.1
Submitted: (Sep 21, 2021)
Evidence details

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=AHI1 - - - -

Text-mined citations for rs6914831...

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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 20, 2021