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NM_194248.3(OTOF):c.4873G>A (p.Val1625Met)

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Interpretation:
Benign​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 8, 2013)
Last evaluated:
Apr 26, 2011
Accession:
VCV000021855.2
Variation ID:
21855
Description:
single nucleotide variant
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NM_194248.3(OTOF):c.4873G>A (p.Val1625Met)

Allele ID
34707
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.3
Genomic location
2: 26464956 (GRCh38) GRCh38 UCSC
2: 26687824 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.26687824C>T
NC_000002.12:g.26464956C>T
NG_009937.1:g.98743G>A
... more HGVS
Protein change
V1625M, V858M, V935M
Other names
-
Canonical SPDI
NC_000002.12:26464955:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA342575
UniProtKB: Q9HC10#VAR_032238
dbSNP: rs80356579
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 no assertion criteria provided Apr 26, 2011 RCV000021066.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OTOF - - GRCh38
GRCh37
754 774

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
benign
(Apr 26, 2011)
no assertion criteria provided
Method: curation
OTOF-Related Deafness
Allele origin: not provided
GeneReviews
Accession: SCV000041722.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Benign.

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
<i>OTOF</i>-Related Deafness Azaiez H - 2021 PMID: 20301429

Text-mined citations for rs80356579...

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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 Nov 27, 2021