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NM_022445.3(TPK1):c.366C>T (p.Ile122=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 26, 2018)
Last evaluated:
Mar 1, 2017
Accession:
VCV000215272.1
Variation ID:
215272
Description:
single nucleotide variant
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NM_022445.3(TPK1):c.366C>T (p.Ile122=)

Allele ID
211315
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q35
Genomic location
7: 144591558 (GRCh38) GRCh38 UCSC
7: 144288651 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.144288651G>A
NC_000007.14:g.144591558G>A
NM_022445.3:c.366C>T NP_071890.2:p.Ile122= synonymous
... more HGVS
Protein change
-
Other names
p.I122I:ATC>ATT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00006
Links
dbSNP: rs863224236
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Aug 6, 2014 RCV000199005.1
Likely benign 1 criteria provided, single submitter Mar 1, 2017 RCV000535730.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TPK1 - - GRCh38
GRCh38
GRCh37
38 82

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Mar 01, 2017)
criteria provided, single submitter
Method: clinical testing
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
Allele origin: germline
Invitae
Accession: SCV000652140.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Aug 06, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000252395.11
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at ... (more)

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 Mar 29, 2019