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NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 19, 2018)
Accession:
VCV000598989.1
Variation ID:
598989
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val)

Allele ID
590036
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 216084862 (GRCh38) GRCh38 UCSC
1: 216258204 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.216258204C>A
NC_000001.11:g.216084862C>A
NG_009497.1:g.343535G>T
... more HGVS
Protein change
G1668V
Other names
-
Canonical SPDI
NC_000001.11:216084861:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs1265349835
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 - RCV000735363.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
USH2A - - GRCh38
GRCh37
3407 4062
USH2A-AS2 - - - GRCh38 - 262

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(-)
criteria provided, single submitter
Method: clinical testing
Abnormality of the upper limb
Abnormal upper limb bone morphology
Abnormality of upper limb joint
Anxiety
Brisk reflexes
Chronic pain
Cognitive impairment
Dislocated radial head
Distal arthrogryposis
Abnormal autonomic nervous system physiology
High palate
Multiple joint contractures
Short stature
Allele origin: germline
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles
Accession: SCV000854517.1
Submitted: (Nov 19, 2018)
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 rs1265349835...

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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