NM_020166.5(MCCC1):c.1394C>T (p.Thr465Ile) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 30, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001564641.3

Allele description [Variation Report for NM_020166.5(MCCC1):c.1394C>T (p.Thr465Ile)]

NM_020166.5(MCCC1):c.1394C>T (p.Thr465Ile)

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.1394C>T (p.Thr465Ile)

HGVS:

NC_000003.12:g.183037418G>A
NG_008100.1:g.67160C>T
NM_001293273.2:c.1043C>T
NM_001363880.1:c.1067C>T
NM_020166.5:c.1394C>TMANE SELECT
NP_001280202.1:p.Thr348Ile
NP_001350809.1:p.Thr356Ile
NP_064551.3:p.Thr465Ile
NC_000003.11:g.182755206G>A
NM_020166.3:c.1394C>T
NR_120639.2:n.1217C>T

Protein change:

T348I

Links:

dbSNP: rs1000891879

NCBI 1000 Genomes Browser:

rs1000891879

Molecular consequence:

NM_001293273.2:c.1043C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001363880.1:c.1067C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_020166.5:c.1394C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_120639.2:n.1217C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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eno [Corynebacterium parakroppenstedtii]
eno [Corynebacterium parakroppenstedtii]
Gene ID:86870930

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001787838	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jun 30, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001787838

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jun 30, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001787838.1

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

Description

Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic [(Stenson et al., 2014; other references)]; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Jul 23, 2024

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