NM_000532.5(PCCB):c.862G>A (p.Val288Ile) AND Propionic acidemia

Clinical significance:Benign (Last evaluated: May 17, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000032134.2

Allele description [Variation Report for NM_000532.5(PCCB):c.862G>A (p.Val288Ile)]

NM_000532.5(PCCB):c.862G>A (p.Val288Ile)

Gene:
PCCB:propionyl-CoA carboxylase subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q22.3
Genomic location:
Preferred name:
NM_000532.5(PCCB):c.862G>A (p.Val288Ile)
HGVS:
  • NC_000003.12:g.136298050G>A
  • NG_008939.1:g.52726G>A
  • NM_000532.5:c.862G>AMANE SELECT
  • NM_001178014.1:c.922G>A
  • NP_000523.2:p.Val288Ile
  • NP_001171485.1:p.Val308Ile
  • NC_000003.11:g.136016892G>A
  • NM_000532.4:c.862G>A
Protein change:
V288I
Links:
dbSNP: rs201984177
NCBI 1000 Genomes Browser:
rs201984177
Molecular consequence:
  • NM_000532.5:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178014.1:c.922G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000055691GeneReviewsno assertion criteria providednon-pathogenic
(May 17, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000055691.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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