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NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
Mar 7, 2007
Accession:
VCV000043514.2
Variation ID:
43514
Description:
1bp insertion
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NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs)

Allele ID
52683
Variant type
Insertion
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107698045-107698046 (GRCh38) GRCh38 UCSC
7: 107338490-107338491 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107338490_107338491insC
NC_000007.14:g.107698045_107698046insC
NM_000441.2:c.1548_1549insC MANE Select NP_000432.1:p.Ser517fs frameshift
NG_008489.1:g.42411_42412insC
Protein change
S517fs
Other names
-
Canonical SPDI
NC_000007.14:107698045::C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs111033317
ClinGen: CA261415
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 7, 2007 RCV000036448.2
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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
749 825

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 07, 2007)
criteria provided, single submitter
Method: clinical testing
Rare genetic deafness
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000060103.6
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)

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
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. Park HJ Journal of medical genetics 2003 PMID: 12676893

Text-mined citations for rs111033317...

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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 Jul 07, 2021