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NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000262000.5
Variation ID:
262000
Description:
single nucleotide variant
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NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=)

Allele ID
257347
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20p13
Genomic location
20: 3234249 (GRCh38) GRCh38 UCSC
20: 3214895 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.3214895C>T
NC_000020.11:g.3234249C>T
NM_001174089.2:c.357G>A MANE Select NP_001167560.1:p.Ala119= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000020.11:3234248:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.02336 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.02826
Exome Aggregation Consortium (ExAC) 0.02021
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02730
1000 Genomes Project 0.02336
Trans-Omics for Precision Medicine (TOPMed) 0.02962
Links
ClinGen: CA9742320
dbSNP: rs34460295
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Dec 8, 2020 RCV000992994.2
Benign 1 criteria provided, single submitter - RCV000254089.1
Benign 1 criteria provided, single submitter Apr 27, 2017 RCV001137141.1
Benign 1 no assertion criteria provided Sep 16, 2020 RCV001275548.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC4A11 - - GRCh38
GRCh37
434 474

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000314832.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Mar 30, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001145653.1
Submitted: (Sep 25, 2019)
Evidence details
Benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Corneal dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001297049.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (3)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001727649.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Harboyan syndrome
Allele origin: germline
Natera, Inc.
Accession: SCV001460788.1
Submitted: (Dec 28, 2020)
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
Genetic screen of African Americans with Fuchs endothelial corneal dystrophy. Minear MA Molecular vision 2013 PMID: 24348007
Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. Hemadevi B BMC ophthalmology 2010 PMID: 20144242
Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family. Shah SS Ophthalmic genetics 2008 PMID: 18363173

Text-mined citations for rs34460295...

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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 Jun 23, 2021