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NM_000441.2(SLC26A4):c.2182_2183insG (p.Tyr728Ter)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jul 1, 2000
Accession:
VCV000004832.1
Variation ID:
4832
Description:
1bp insertion
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NM_000441.2(SLC26A4):c.2182_2183insG (p.Tyr728Ter)

Allele ID
19871
Variant type
Insertion
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107710146-107710147 (GRCh38) GRCh38 UCSC
7: 107350591-107350592 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107350591_107350592insG
NC_000007.14:g.107710146_107710147insG
NG_008489.1:g.54512_54513insG
NM_000441.2:c.2182_2183insG MANE Select NP_000432.1:p.Tyr728Ter nonsense
Protein change
Y728*
Other names
-
Canonical SPDI
NC_000007.14:107710146::G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 605646.0021
dbSNP: rs1584344687
VarSome
Comment on variant
ClinGen staff contributed the HGVS expression for this variant.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jul 1, 2000 RCV000005103.3
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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
Pathogenic
(Jul 01, 2000)
no assertion criteria provided
Method: literature only
PENDRED SYNDROME
Allele origin: germline
OMIM
Accession: SCV000025279.2
Submitted: (Dec 30, 2010)
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
Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome. Fugazzola L The Journal of clinical endocrinology and metabolism 2000 PMID: 10902795

Text-mined citations for rs1584344687...

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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 08, 2021