Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_020166.5(MCCC1):c.89+1G>C

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 21, 2021)
Last evaluated:
Sep 16, 2020
Accession:
VCV000649749.4
Variation ID:
649749
Description:
single nucleotide variant
Help

NM_020166.5(MCCC1):c.89+1G>C

Allele ID
651071
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q27.1
Genomic location
3: 183099351 (GRCh38) GRCh38 UCSC
3: 182817139 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.182817139C>G
NC_000003.12:g.183099351C>G
NM_020166.5:c.89+1G>C MANE Select splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:183099350:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
Exome Aggregation Consortium (ExAC) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
dbSNP: rs771730236
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Sep 16, 2020 RCV000804750.4
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 16, 2020)
criteria provided, single submitter
Method: clinical testing
3 Methylcrotonyl-CoA carboxylase 1 deficiency
Allele origin: unknown
Baylor Genetics
Accession: SCV001523033.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Likely pathogenic
(Aug 24, 2020)
criteria provided, single submitter
Method: clinical testing
3 Methylcrotonyl-CoA carboxylase 1 deficiency
Allele origin: germline
Invitae
Accession: SCV000944674.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change affects a donor splice site in intron 1 of the MCCC1 gene. It is expected to disrupt RNA splicing and likely results … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Grünert SC Orphanet journal of rare diseases 2012 PMID: 22642865
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. Baumgartner MR American journal of human genetics 2004 PMID: 15359379
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. Baumgartner MR The Journal of clinical investigation 2001 PMID: 11181649

Text-mined citations for rs771730236...

Help
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 May 10, 2021