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NM_000441.2(SLC26A4):c.2139del (p.Arg714fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 20, 2020
Accession:
VCV001069794.1
Variation ID:
1069794
Description:
1bp deletion
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NM_000441.2(SLC26A4):c.2139del (p.Arg714fs)

Allele ID
1060958
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107710102 (GRCh38) GRCh38 UCSC
7: 107350547 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107350548del
NC_000007.14:g.107710103del
NM_000441.2:c.2139del MANE Select NP_000432.1:p.Arg714fs frameshift
NG_008489.1:g.54469del
Protein change
R714fs
Other names
-
Canonical SPDI
NC_000007.14:107710101:TT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 20, 2020 RCV001381759.1
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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
749 825

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 20, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001580257.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Arg714Glufs*7) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein … (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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Title Author Journal Year Link
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. Sloan-Heggen CM Journal of medical genetics 2015 PMID: 26445815
Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China. Jiang Y PloS one 2015 PMID: 26252218
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. Soh LM European journal of endocrinology 2015 PMID: 25394566
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. Hutchin T Clinical genetics 2005 PMID: 16283880

Record last updated May 13, 2021