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NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 24, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000260861.7
Variation ID:
260861
Description:
single nucleotide variant
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NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser)

Allele ID
252139
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q23.3
Genomic location
6: 135465839 (GRCh38) GRCh38 UCSC
6: 135786977 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.135786977G>A
NM_017651.4:c.724C>T NP_060121.3:p.Pro242Ser missense
NC_000006.12:g.135465839G>A
... more HGVS
Protein change
P242S
Other names
-
Canonical SPDI
NC_000006.12:135465838:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00539 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00330
The Genome Aggregation Database (gnomAD), exomes 0.00097
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00178
The Genome Aggregation Database (gnomAD) 0.00299
Exome Aggregation Consortium (ExAC) 0.00108
1000 Genomes Project 0.00539
Links
ClinGen: CA4012775
dbSNP: rs143522987
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Mar 29, 2019 RCV000443752.5
Likely benign 1 criteria provided, single submitter - RCV000246201.5
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV001079300.2
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001157232.1
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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
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000312899.1
Submitted: (Apr 28, 2016)
Evidence details
Likely Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000511107.1
Submitted: (Feb 17, 2017)
Evidence details
Comment:
Converted during submission to Likely benign.
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001318783.1
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
Agenesis of cerebellar vermis
Allele origin: germline
Invitae
Accession: SCV000634574.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 29, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000517161.4
Submitted: (Sep 24, 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 rs143522987...

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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