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NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 27, 2020
Accession:
VCV000128324.7
Variation ID:
128324
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)

Allele ID
133773
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135429886 (GRCh38) GRCh38 UCSC
6: 135751024 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q8N157:p.Arg830Trp
NC_000006.12:g.135429886G>A
NG_008643.2:g.72880C>T
... more HGVS
Protein change
R830W
Other names
-
Canonical SPDI
NC_000006.12:135429885:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01138 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.01921
Trans-Omics for Precision Medicine (TOPMed) 0.01976
The Genome Aggregation Database (gnomAD), exomes 0.02014
Exome Aggregation Consortium (ExAC) 0.03852
1000 Genomes Project 0.01138
Trans-Omics for Precision Medicine (TOPMed) 0.01963
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02007
The Genome Aggregation Database (gnomAD) 0.02035
Links
ClinGen: CA151702
UniProtKB: Q8N157#VAR_037896
dbSNP: rs13312995
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Apr 2, 2016 RCV000116287.10
Benign 1 criteria provided, single submitter Nov 27, 2020 RCV000386088.6
Benign 1 criteria provided, single submitter May 28, 2019 RCV000987787.1
Benign 1 criteria provided, single submitter Mar 6, 2018 RCV001095102.1
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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
(Mar 02, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000202149.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/vari…
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000312872.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Apr 02, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000511998.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 1
Allele origin: unknown
Mendelics
Accession: SCV001137240.1
Submitted: (Oct 22, 2019)
Evidence details
Benign
(Mar 06, 2018)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000460486.3
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
(Nov 27, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome
Allele origin: germline
Invitae
Accession: SCV000558465.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000150205.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)

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 rs13312995...

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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