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NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
3 (Most recent: Dec 22, 2014)
Last evaluated:
Dec 22, 2014
Accession:
VCV000133246.2
Variation ID:
133246
Description:
single nucleotide variant
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NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)

Allele ID
136991
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2496681 (GRCh38) GRCh38 UCSC
16: 2546682 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.2496681C>T
NC_000016.9:g.2546682C>T
NM_001199107.2:c.533C>T NP_001186036.1:p.Ser178Leu missense
... more HGVS
Protein change
S178L
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
dbSNP: rs483352866
ClinGen: CA156356
UniProtKB: Q9ULP9#VAR_072107
OMIM: 613577.0014
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Dec 22, 2014 RCV000144534.3
not provided 1 no assertion provided - RCV000119776.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TBC1D24 - - GRCh38
GRCh37
412 453

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 22, 2014)
no assertion criteria provided
Method: literature only
DFNA65
Allele origin: germline
Division of Medical Genetics; Sainte-Justine Hospital
Accession: SCV000211978.1
Submitted: (Dec 22, 2014)
Evidence details
Other databases
http://www.ncbi.nlm.nih.gov/bo...
Pathogenic
(Jul 01, 2014)
no assertion criteria provided
Method: literature only
DEAFNESS, AUTOSOMAL DOMINANT 65
Allele origin: germline
OMIM
Accession: SCV000189846.2
Submitted: (Oct 14, 2014)
Evidence details
Publications
PubMed (2)
not provided
(-)
no assertion provided
Method: not provided
Deafness, autosomal recessive 86
Allele origin: germline
Molecular Biology of Hearing and Deafness Laboratory, Xinhua Hospital
Accession: SCV000154683.1
Submitted: (Mar 12, 2014)
Comment:
This mutation was identified in a dominant family segregated with late-onset, progressive, non-syndromic hearing impairment. Linkage analysis revealed a 2.07 Mb candidate region on chromosome ... (more)
Evidence details

Citations for this variant

Title Author Journal Year Link
<i>TBC1D24</i>-Related Disorders Mucha BE - 2017 PMID: 25719194
A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. Zhang L Human mutation 2014 PMID: 24729547
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Azaiez H Human mutation 2014 PMID: 24729539
http://www.ncbi.nlm.nih.gov/books/NBK274566/ - - - -

Record last updated Oct 27, 2019