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NM_000441.2(SLC26A4):c.886A>G (p.Ile296Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 5, 2019)
Last evaluated:
Dec 19, 2018
Accession:
VCV000811579.1
Variation ID:
811579
Description:
single nucleotide variant
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NM_000441.2(SLC26A4):c.886A>G (p.Ile296Val)

Allele ID
799472
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107683322 (GRCh38) GRCh38 UCSC
7: 107323767 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107323767A>G
NC_000007.14:g.107683322A>G
NM_000441.2:c.886A>G MANE Select NP_000432.1:p.Ile296Val missense
NG_008489.1:g.27688A>G
Protein change
I296V
Other names
-
Canonical SPDI
NC_000007.14:107683321:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs761613436
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 19, 2018 RCV001001616.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC26A4 - - GRCh38
GRCh37
748 824

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 19, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001159067.1
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The SLC26A4 c.886A>G; p.Ile296Val variant (rs761613436), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found on … (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.

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 rs761613436...

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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 Oct 06, 2020