NM_000282.4(PCCA):c.134_135del (p.Leu45fs) AND Propionic acidemia

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000236562.1

Allele description [Variation Report for NM_000282.4(PCCA):c.134_135del (p.Leu45fs)]

NM_000282.4(PCCA):c.134_135del (p.Leu45fs)

Gene:
PCCA:propionyl-CoA carboxylase subunit alpha [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q32.3
Genomic location:
Preferred name:
NM_000282.4(PCCA):c.134_135del (p.Leu45fs)
HGVS:
  • NC_000013.11:g.100102911_100102912del
  • NG_008768.1:g.18829_18830del
  • NM_000282.4:c.134_135delMANE SELECT
  • NM_001127692.3:c.106-8930_106-8929del
  • NM_001178004.2:c.134_135del
  • NM_001352605.2:c.134_135del
  • NM_001352606.2:c.134_135del
  • NM_001352607.2:c.106-8930_106-8929del
  • NM_001352608.2:c.106-8930_106-8929del
  • NM_001352609.2:c.134_135del
  • NM_001352610.2:c.-733_-732del
  • NM_001352611.2:c.-733_-732del
  • NM_001352612.2:c.-733_-732del
  • NP_000273.2:p.Leu45fs
  • NP_001171475.1:p.Leu45fs
  • NP_001339534.1:p.Leu45fs
  • NP_001339535.1:p.Leu45fs
  • NP_001339538.1:p.Leu45fs
  • NC_000013.10:g.100755165_100755166del
  • NM_000282.3:c.134_135delTA
  • NR_148027.2:n.162_163del
  • NR_148028.2:n.162_163del
  • NR_148030.2:n.162_163del
  • NR_148031.2:n.162_163del
  • p.Leu45TyrfsX5
Protein change:
L45fs
Links:
dbSNP: rs879253809
NCBI 1000 Genomes Browser:
rs879253809
Molecular consequence:
  • NM_001352610.2:c.-733_-732del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352611.2:c.-733_-732del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352612.2:c.-733_-732del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000282.4:c.134_135del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001178004.2:c.134_135del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352605.2:c.134_135del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352606.2:c.134_135del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352609.2:c.134_135del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127692.3:c.106-8930_106-8929del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352607.2:c.106-8930_106-8929del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352608.2:c.106-8930_106-8929del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_148027.2:n.162_163del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148028.2:n.162_163del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148030.2:n.162_163del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148031.2:n.162_163del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Propionic acidemia (PROP)
Synonyms:
Propionyl-CoA carboxylase deficiency; PCC deficiency; Glycinemia, ketotic; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011628; MedGen: C0268579; Orphanet: 35; OMIM: 606054; Human Phenotype Ontology: HP:0003353

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000256852Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital - ORGANIC ACIDURIAScriteria provided, single submitter
Pathogenic
(Jan 1, 2015)
germlineresearch

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

Description

Small deletion mutation

SCV000256852

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

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, SCV000256852.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 24, 2021

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