NM_000532.5(PCCB):c.1223del (p.Ile408fs) AND Propionic acidemia

Clinical significance:Pathogenic (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000987340.3

Allele description [Variation Report for NM_000532.5(PCCB):c.1223del (p.Ile408fs)]

NM_000532.5(PCCB):c.1223del (p.Ile408fs)

Gene:
PCCB:propionyl-CoA carboxylase subunit beta [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q22.3
Genomic location:
Preferred name:
NM_000532.5(PCCB):c.1223del (p.Ile408fs)
HGVS:
  • NC_000003.12:g.136327179del
  • NG_008939.1:g.81855del
  • NM_000532.5:c.1223delMANE SELECT
  • NM_001178014.1:c.1283del
  • NP_000523.2:p.Ile408fs
  • NP_001171485.1:p.Ile428fs
  • NC_000003.11:g.136046021del
  • NC_000003.11:g.136046021delT
Protein change:
I408fs
Links:
dbSNP: rs758309460
NCBI 1000 Genomes Browser:
rs758309460
Molecular consequence:
  • NM_000532.5:c.1223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001178014.1:c.1283del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001136612Mendelicscriteria provided, single submitter
Pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001136612.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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