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NM_000441.2(SLC26A4):c.-66C>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 17, 2021)
Last evaluated:
Apr 27, 2017
Accession:
VCV000043487.6
Variation ID:
43487
Description:
single nucleotide variant
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NM_000441.2(SLC26A4):c.-66C>G

Allele ID
52657
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107660793 (GRCh38) GRCh38 UCSC
7: 107301238 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107301238C>G
NM_000441.2:c.-66C>G MANE Select
NC_000007.14:g.107660793C>G
NG_008489.1:g.5159C>G
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:107660792:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.08766 (G)

Allele frequency
1000 Genomes Project 0.08766
Trans-Omics for Precision Medicine (TOPMed) 0.08235
Links
dbSNP: rs17154282
ClinGen: CA132649
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 Aug 18, 2009 RCV000036416.2
Likely benign 2 criteria provided, single submitter Apr 27, 2017 RCV000265909.3
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV000304663.2
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001668153.2
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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
SLC26A4-AS1 - - - GRCh38 - 62

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Aug 18, 2009)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000060071.6
Submitted: (Mar 21, 2019)
Evidence details
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Pendred syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000466074.3
Submitted: (Feb 20, 2020)
Evidence details
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)
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000466075.3
Submitted: (Feb 20, 2020)
Evidence details
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
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001889778.1
Submitted: (Sep 17, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Pendred syndrome
Allele origin: germline
Natera, Inc.
Accession: SCV001455789.1
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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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 rs17154282...

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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 Sep 23, 2021