NM_000282.4(PCCA):c.431G>T (p.Gly144Val) AND Propionic acidemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2014
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:: RCV000237065.3

Allele description [Variation Report for NM_000282.4(PCCA):c.431G>T (p.Gly144Val)]

NM_000282.4(PCCA):c.431G>T (p.Gly144Val)

Gene:

PCCA:propionyl-CoA carboxylase subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q32.3

Genomic location:

Preferred name:

NM_000282.4(PCCA):c.431G>T (p.Gly144Val)

HGVS:

NC_000013.11:g.100157303G>T
NG_008768.1:g.73221G>T
NM_000282.4:c.431G>TMANE SELECT
NM_001127692.3:c.353G>T
NM_001178004.2:c.431G>T
NM_001352605.2:c.431G>T
NM_001352606.2:c.431G>T
NM_001352607.2:c.353G>T
NM_001352608.2:c.353G>T
NM_001352609.2:c.431G>T
NM_001352610.2:c.-436G>T
NM_001352611.2:c.-436G>T
NM_001352612.2:c.-436G>T
NP_000273.2:p.Gly144Val
NP_001121164.1:p.Gly118Val
NP_001171475.1:p.Gly144Val
NP_001339534.1:p.Gly144Val
NP_001339535.1:p.Gly144Val
NP_001339536.1:p.Gly118Val
NP_001339537.1:p.Gly118Val
NP_001339538.1:p.Gly144Val
NC_000013.10:g.100809557G>T
NM_000282.3:c.431G>T
NR_148027.2:n.459G>T
NR_148028.2:n.459G>T
NR_148029.2:n.381G>T
NR_148030.2:n.459G>T
NR_148031.2:n.459G>T

Protein change:

G118V

Links:

dbSNP: rs879253808

NCBI 1000 Genomes Browser:

rs879253808

Molecular consequence:

NM_001352610.2:c.-436G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001352611.2:c.-436G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001352612.2:c.-436G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000282.4:c.431G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127692.3:c.353G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001178004.2:c.431G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352605.2:c.431G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352606.2:c.431G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352607.2:c.353G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352608.2:c.353G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352609.2:c.431G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_148027.2:n.459G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148028.2:n.459G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148029.2:n.381G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148030.2:n.459G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148031.2:n.459G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Propionic acidemia (PROP)
Synonyms:: Glycinemia, ketotic; Hyperglycinemia with ketoacidosis and leukopenia; Ketotic hyperglycinemia
Identifiers:: MONDO: MONDO:0011628; MedGen: C0268579; Orphanet: 35; OMIM: 606054; Human Phenotype Ontology: HP:0003571

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000256850	Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital - ORGANIC ACIDURIAS	criteria provided, single submitter (Gupta et al. (Genet Test Mol Biomarkers 2016))	Pathogenic (Jan 1, 2014)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000256850

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital - ORGANIC ACIDURIAS

criteria provided, single submitter

(Gupta et al. (Genet Test Mol Biomarkers 2016))

Pathogenic
(Jan 1, 2014)

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.

Gupta D, Bijarnia-Mahay S, Kohli S, Saxena R, Puri RD, Shigematsu Y, Yamaguchi S, Sakamoto O, Gupta N, Kabra M, Thakur S, Deb R, Verma IC.

Genet Test Mol Biomarkers. 2016 Jul;20(7):373-82. doi: 10.1089/gtmb.2016.0017. Epub 2016 May 26.

PubMed [citation]

PMID:: 27227689

Details of each submission

From Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital - ORGANIC ACIDURIAS, SCV000256850.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

#	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		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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