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NM_054035.2(UNC119):c.169A>T (p.Lys57Ter)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Feb 1, 2019)
Last evaluated:
Oct 24, 2018
Accession:
VCV000005882.2
Variation ID:
5882
Description:
single nucleotide variant
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NM_054035.2(UNC119):c.169A>T (p.Lys57Ter)

Allele ID
20921
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q11.2
Genomic location
17: 28552389 (GRCh38) GRCh38 UCSC
17: 26879407 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.26879407T>A
NC_000017.11:g.28552389T>A
NM_001330166.2:c.-145A>T 5 prime UTR
... more HGVS
Protein change
K57*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00013
The Genome Aggregation Database (gnomAD) 0.00013
Trans-Omics for Precision Medicine (TOPMed) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00009
Links
OMIM: 604011.0001
dbSNP: rs267607166
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Oct 24, 2018 RCV000006240.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
UNC119 - - GRCh38
GRCh37
31 41

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 24, 2018)
criteria provided, single submitter
Method: clinical testing
Cone-rod dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915751.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The UNC119 c.169A>T (p.Lys57Ter) variant is a stop-gained variant that has been reported in one patient with late-onset cone-rod dystrophy (CRD) in a heterozygous state ... (more)
Pathogenic
(Oct 01, 2000)
no assertion criteria provided
Method: literature only
CONE-ROD DYSTROPHY
Allele origin: germline
OMIM
Accession: SCV000026422.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. Kobayashi A Investigative ophthalmology & visual science 2000 PMID: 11006213

Record last updated Oct 11, 2019