NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) 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:: RCV001271415.4

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

NCBI 1000 Genomes Browser:

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001452541	Natera, Inc.	no assertion criteria provided	Uncertain significance (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001452541

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Sep 16, 2020)

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 Natera, Inc., SCV001452541.1

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

#	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 25, 2025

ClinVar

Relating variation to medicine