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NM_000108.5(DLD):c.1422A>C (p.Gly474=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000137101.9
Variation ID:
137101
Description:
single nucleotide variant
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NM_000108.5(DLD):c.1422A>C (p.Gly474=)

Allele ID
140804
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q31.1
Genomic location
7: 107919057 (GRCh38) GRCh38 UCSC
7: 107559502 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107559502A>C
NC_000007.14:g.107919057A>C
NG_008045.1:g.32917A>C
... more HGVS
Protein change
-
Other names
p.G474G:GGA>GGC
Canonical SPDI
NC_000007.14:107919056:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00479 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00850
Exome Aggregation Consortium (ExAC) 0.00880
1000 Genomes Project 0.00479
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00946
Trans-Omics for Precision Medicine (TOPMed) 0.00787
The Genome Aggregation Database (gnomAD) 0.00918
The Genome Aggregation Database (gnomAD) 0.01064
Links
ClinGen: CA290613
dbSNP: rs34453495
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Dec 5, 2020 RCV001000277.7
Benign 1 criteria provided, single submitter Dec 2, 2011 RCV000124696.2
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001159068.1
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001159069.1
Benign 1 no assertion criteria provided Dec 6, 2017 RCV000676805.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DLD - - GRCh38
GRCh37
307 328

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 02, 2011)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000168130.11
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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease, type 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001320753.1
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)
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Leigh syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001320754.1
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)
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase complex deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001320752.1
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)
Benign
(Jan 29, 2020)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease, type 3
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001156909.2
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease, type 3
Allele origin: germline
Invitae
Accession: SCV000775718.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Dec 06, 2017)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000802613.1
Submitted: (May 23, 2018)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Maple syrup urine disease type 3
Allele origin: germline
Natera, Inc.
Accession: SCV001464061.1
Submitted: (Dec 28, 2020)
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 rs34453495...

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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