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NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) AND Methylcrotonyl-CoA carboxylase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 2020
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:
RCV001271401.2

Allele description [Variation Report for NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln)]

NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln)

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.995G>A (p.Arg332Gln)
HGVS:
  • NC_000005.10:g.71635242G>A
  • NG_008882.1:g.52955G>A
  • NM_001363147.1:c.881G>A
  • NM_022132.5:c.995G>AMANE SELECT
  • NP_001350076.1:p.Arg294Gln
  • NP_071415.1:p.Arg332Gln
  • NC_000005.9:g.70931069G>A
  • NM_022132.4:c.995G>A
Protein change:
R294Q
Links:
dbSNP: rs144203670
NCBI 1000 Genomes Browser:
rs144203670
Molecular consequence:
  • NM_001363147.1:c.881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022132.5:c.995G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Methylcrotonyl-CoA carboxylase deficiency
Synonyms:
Deficiency of methylcrotonoyl-CoA carboxylase; 3 Methylcrotonylglycinuria; 3-MCC Deficiency
Identifiers:
MONDO: MONDO:0018950; MedGen: C4551505; OMIM: PS210200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001452527Natera, Inc.
no assertion criteria provided
Uncertain significance
(Sep 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001452527.1

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

Last Updated: Sep 29, 2024