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NM_000441.2(SLC26A4):c.*2250_*2251del

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000358529.2
Variation ID:
358529
Description:
2bp deletion
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NM_000441.2(SLC26A4):c.*2250_*2251del

Allele ID
301439
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
7q22.3
Genomic location
7: 107717695-107717696 (GRCh38) GRCh38 UCSC
7: 107358140-107358141 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107358141_107358142del
NC_000007.14:g.107717696_107717697del
NG_008489.1:g.62062_62063del
NM_000441.2:c.*2250_*2251del MANE Select 3 prime UTR
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:107717694:GAG:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10622941
dbSNP: rs886061895
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000333136.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000371552.2
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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
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Nonsyndromic Hearing Loss, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000466162.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Pendred Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000466161.2
Submitted: (Oct 18, 2016)
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 rs886061895...

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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 29, 2021