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NM_000360.4(TH):c.342G>A (p.Glu114=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Aug 3, 2017
Accession:
VCV000263256.1
Variation ID:
263256
Description:
single nucleotide variant
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NM_000360.4(TH):c.342G>A (p.Glu114=)

Allele ID
254112
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2168636 (GRCh38) GRCh38 UCSC
11: 2189866 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.2168636C>T
NC_000011.9:g.2189866C>T
NM_000360.4:c.342G>A MANE Select NP_000351.2:p.Glu114= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:2168635:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
ClinGen: CA10587112
dbSNP: rs886038763
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter - RCV000242988.1
Uncertain significance 1 criteria provided, single submitter Aug 3, 2017 RCV000728318.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TH - - GRCh38
GRCh37
491 535

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000317148.1
Submitted: (Apr 28, 2016)
Evidence details
Uncertain significance
(Aug 03, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000855873.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TH - - - -

Text-mined citations for rs886038763...

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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 Jun 23, 2021