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NM_003292.3(TPR):c.1037T>C (p.Ile346Thr)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 21, 2018)
Accession:
VCV000488642.1
Variation ID:
488642
Description:
single nucleotide variant
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NM_003292.3(TPR):c.1037T>C (p.Ile346Thr)

Allele ID
481510
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q31.1
Genomic location
1: 186360827 (GRCh38) GRCh38 UCSC
1: 186329959 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.186360827A>G
NC_000001.10:g.186329959A>G
NM_003292.3:c.1037T>C NP_003283.2:p.Ile346Thr
NG_023284.1:g.19499T>C
Protein change
I346T
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00202
Trans-Omics for Precision Medicine (TOPMed) 0.00145
The Genome Aggregation Database (gnomAD), exomes 0.00222
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD) 0.00197
Exome Aggregation Consortium (ExAC) 0.00197
Links
dbSNP: rs199892357
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided - RCV000578403.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TPR - - GRCh38
GRCh37
1 28

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(-)
no assertion criteria provided
Method: research
Intellectual disability
Allele origin: germline
Lars Feuk Lab,Uppsala University
Accession: SCV000680439.2
Submitted: (Dec 21, 2018)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 17, 2019