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NM_001134831.2(AHI1):c.1791C>T (p.Ile597=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 24, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000194255.7
Variation ID:
194255
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.1791C>T (p.Ile597=)

Allele ID
191418
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135442703 (GRCh38) GRCh38 UCSC
6: 135763841 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.12:g.135442703G>A
NG_008643.2:g.60063C>T
NM_001134830.2:c.1791C>T NP_001128302.1:p.Ile597= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:135442702:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00539 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00102
The Genome Aggregation Database (gnomAD) 0.00299
The Genome Aggregation Database (gnomAD) 0.00307
The Genome Aggregation Database (gnomAD), exomes 0.00076
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00169
Trans-Omics for Precision Medicine (TOPMed) 0.00345
Trans-Omics for Precision Medicine (TOPMed) 0.00329
1000 Genomes Project 0.00539
Links
ClinGen: CA201065
dbSNP: rs150425546
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, single submitter May 19, 2015 RCV000174581.6
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV000556603.4
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001151674.1
Benign 1 criteria provided, single submitter Dec 31, 2018 RCV001704254.1
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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
633 648

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 19, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000225901.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/vari…
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001312839.1
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 03, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome
Allele origin: germline
Invitae
Accession: SCV000634563.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Dec 31, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000517162.3
Submitted: (Sep 24, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001924112.1
Submitted: (Sep 23, 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: SCV001966451.1
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.

Text-mined citations for rs150425546...

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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 Dec 04, 2021