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NM_005271.5(GLUD1):c.342T>C (p.His114=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 30, 2020
Accession:
VCV000129161.5
Variation ID:
129161
Description:
single nucleotide variant
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NM_005271.5(GLUD1):c.342T>C (p.His114=)

Allele ID
134607
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.2
Genomic location
10: 87094428 (GRCh38) GRCh38 UCSC
10: 88854185 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.88854185A>G
NC_000010.11:g.87094428A>G
NM_005271.5:c.342T>C MANE Select NP_005262.1:p.His114= synonymous
... more HGVS
Protein change
-
Other names
p.H114H:CAT>CAC
Canonical SPDI
NC_000010.11:87094427:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.01358 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.01315
Trans-Omics for Precision Medicine (TOPMed) 0.01289
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01331
1000 Genomes Project 0.01358
Exome Aggregation Consortium (ExAC) 0.00409
The Genome Aggregation Database (gnomAD), exomes 0.00317
Links
ClinGen: CA288888
dbSNP: rs142544510
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts May 16, 2014 RCV000117150.3
Benign 2 criteria provided, multiple submitters, no conflicts Nov 30, 2020 RCV000641059.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GLUD1 - - GRCh38
GRCh37
97 157

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000310999.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(May 16, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000168689.11
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)
Benign
(Nov 30, 2020)
criteria provided, single submitter
Method: clinical testing
Hyperinsulinism-hyperammonemia syndrome
Allele origin: germline
Invitae
Accession: SCV000762677.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Oct 29, 2013)
criteria provided, single submitter
Method: clinical testing
AllHighlyPenetrant
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000151313.1
Submitted: (Apr 30, 2014)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Hyperinsulinism-hyperammonemia syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000365708.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

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 rs142544510...

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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