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NM_001134831.2(AHI1):c.*218C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 21, 2021)
Last evaluated:
Jun 26, 2018
Accession:
VCV000355491.3
Variation ID:
355491
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.*218C>T

Allele ID
305954
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135285427 (GRCh38) GRCh38 UCSC
6: 135606565 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.135606565G>A
NC_000006.12:g.135285427G>A
NG_008643.2:g.217339C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:135285426:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.30691 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.27951
1000 Genomes Project 0.30691
The Genome Aggregation Database (gnomAD) 0.25587
Links
ClinGen: CA10625866
dbSNP: rs1052502
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000350652.2
Benign 1 criteria provided, single submitter Jun 26, 2018 RCV001692025.1
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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
626 641

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000460468.3
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
(Jun 26, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001908995.1
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1052502...

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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 06, 2021