NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu) AND Methylcrotonyl-CoA carboxylase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 30, 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:: RCV001277566.2

Allele description [Variation Report for NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)]

NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)

Gene:

MCCC1:methylcrotonyl-CoA carboxylase subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

Preferred name:

NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)

HGVS:

NC_000003.12:g.183092474T>C
NG_008100.1:g.12104A>G
NM_001293273.2:c.44+2085A>G
NM_001363880.1:c.-55+2085A>G
NM_020166.5:c.208A>GMANE SELECT
NP_064551.3:p.Lys70Glu
NC_000003.11:g.182810262T>C
NR_120640.2:n.875A>G

Protein change:

K70E

Links:

dbSNP: rs750133436

NCBI 1000 Genomes Browser:

rs750133436

Molecular consequence:

NM_001293273.2:c.44+2085A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001363880.1:c.-55+2085A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_020166.5:c.208A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_120640.2:n.875A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001464526	Natera, Inc.	no assertion criteria provided	Uncertain significance (Aug 30, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001464526

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Aug 30, 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., SCV001464526.1

#	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 7, 2023

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