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NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000423822.5
Variation ID:
423822
Description:
single nucleotide variant
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NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr)

Allele ID
406952
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107674283 (GRCh38) GRCh38 UCSC
7: 107314728 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107314728G>A
NC_000007.14:g.107674283G>A
NM_000441.2:c.535G>A MANE Select NP_000432.1:p.Ala179Thr missense
NG_008489.1:g.18649G>A
Protein change
A179T
Other names
-
Canonical SPDI
NC_000007.14:107674282:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00024
The Genome Aggregation Database (gnomAD) 0.00124
1000 Genomes Project 0.00080
Exome Aggregation Consortium (ExAC) 0.00032
Trans-Omics for Precision Medicine (TOPMed) 0.00119
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00108
Links
ClinGen: CA4432504
dbSNP: rs114473792
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 21, 2020 RCV000480978.5
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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
749 825

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 10, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000573568.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The A179T variant in the SLC26A4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although … (more)
Likely benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001068483.3
Submitted: (Jan 07, 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 rs114473792...

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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 May 16, 2021