NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) AND MCCC2-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2024
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:: RCV004751665.1

Allele description [Variation Report for NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)]

NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)

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.1690T>C (p.Ter564Gln)

Other names:

*564Q; *526Q

HGVS:

NC_000005.10:g.71656858T>C
NG_008882.1:g.74571T>C
NM_001363147.1:c.1576T>C
NM_022132.5:c.1690T>CMANE SELECT
NP_001350076.1:p.Ter526Gln
NP_071415.1:p.Ter564Gln
NC_000005.9:g.70952685T>C
NM_022132.4:c.1690T>C

Links:

dbSNP: rs751970792

Molecular consequence:

NM_001363147.1:c.1576T>C - stop lost - [Sequence Ontology: SO:0001578]
NM_022132.5:c.1690T>C - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:: MCCC2-related disorder
Synonyms:: MCCC2-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005360469	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Jun 14, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005360469

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Jun 14, 2024)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005360469.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The MCCC2 c.1690T>C variant is predicted to result in extension of the open reading frame (p.*564Glnext*3). This variant is predicted to abolish the stop codon and lead to the extension of the protein by 3 amino acids (p.*564Glnext*3). This variant has been reported in the heterozygous state in two patients. A second variant was not identified in the MCCC2 gene of either patient, though no RNA was identified from the second allele in one of the patients, suggesting the presence of an additional variant not detectable via the methodology used by the researchers (Dantas et al. 2005. PubMed ID: 16010683; Grünert et al. 2012. PubMed ID: 22642865). This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 15, 2026

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