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NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Dec 28, 2020)
Last evaluated:
Aug 18, 2016
Accession:
VCV000476400.2
Variation ID:
476400
Description:
single nucleotide variant
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NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)

Allele ID
452226
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q27.1
Genomic location
3: 183057321 (GRCh38) GRCh38 UCSC
3: 182775109 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.12:g.183057321T>C
NC_000003.11:g.182775109T>C
NM_020166.5:c.863A>G MANE Select NP_064551.3:p.Glu288Gly missense
... more HGVS
Protein change
E288G, E171G, E179G
Other names
-
Canonical SPDI
NC_000003.12:183057320:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00003
Exome Aggregation Consortium (ExAC) 0.00003
Links
ClinGen: CA2718956
dbSNP: rs746500530
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 18, 2016 RCV000549808.1
Uncertain significance 1 no assertion criteria provided Sep 16, 2020 RCV001275512.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MCCC1 - - GRCh38
GRCh37
394 427

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 18, 2016)
criteria provided, single submitter
Method: clinical testing
3 Methylcrotonyl-CoA carboxylase 1 deficiency
Allele origin: germline
Invitae
Accession: SCV000656961.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces glutamic acid with glycine at codon 288 of the MCCC1 protein (p.Glu288Gly). The glutamic acid residue is highly conserved and there … (more)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
3-methylcrotonylglycinuria
Allele origin: germline
Natera, Inc.
Accession: SCV001460697.1
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 rs746500530...

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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 Apr 18, 2021