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NM_000441.2(SLC26A4):c.1264-3C>G

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Nov 16, 2020)
Last evaluated:
Sep 10, 2018
Accession:
VCV000560908.2
Variation ID:
560908
Description:
single nucleotide variant
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NM_000441.2(SLC26A4):c.1264-3C>G

Allele ID
552006
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107694400 (GRCh38) GRCh38 UCSC
7: 107334845 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107334845C>G
NC_000007.14:g.107694400C>G
NG_008489.1:g.38766C>G
NM_000441.2:c.1264-3C>G MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:107694399:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1562835391
Varsome
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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 Sep 10, 2018 RCV000679836.1
Likely pathogenic 1 no assertion criteria provided - RCV001291349.1
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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
748 824

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 10, 2018)
no assertion criteria provided
Method: research
Deafness
Allele origin: inherited
Center for Statistical Genetics, Columbia University
Accession: SCV000804827.1
Submitted: (Sep 10, 2018)
Comment:
Autosomal recessive
Evidence details
Likely pathogenic
(-)
no assertion criteria provided
Method: research
non-syndromic autosomal recessive hearing loss
Allele origin: inherited
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001479823.1
Submitted: (Nov 16, 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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Title Author Journal Year Link
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Richard EM Human mutation 2019 PMID: 30303587

Text-mined citations for rs1562835391...

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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 06, 2021