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NM_022132.5(MCCC2):c.281+5G>T AND 3-methylcrotonyl-CoA carboxylase 2 deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 1, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003326695.1

Allele description [Variation Report for NM_022132.5(MCCC2):c.281+5G>T]

NM_022132.5(MCCC2):c.281+5G>T

Gene:
MCCC2:methylcrotonyl-CoA carboxylase subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q13.2
Genomic location:
Preferred name:
NM_022132.5(MCCC2):c.281+5G>T
HGVS:
  • NC_000005.10:g.71596369G>T
  • NG_008882.1:g.14082G>T
  • NM_001363147.1:c.281+5G>T
  • NM_022132.5:c.281+5G>TMANE SELECT
  • NC_000005.9:g.70892196G>T
  • NM_022132.4:c.281+5G>T
Molecular consequence:
  • NM_001363147.1:c.281+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022132.5:c.281+5G>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
3-methylcrotonyl-CoA carboxylase 2 deficiency
Synonyms:
METHYLCROTONYLGLYCINURIA, TYPE II; 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency; 3 alpha methylcrotonylglycinuria 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008862; MedGen: C1859499; Orphanet: 6; OMIM: 210210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003927861Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
no assertion criteria provided
Uncertain significance
(Apr 1, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), SCV003927861.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024