NM_000282.4(PCCA):c.2040+9TG[5] AND Propionic acidemia

Clinical significance:Likely benign (Last evaluated: Apr 9, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000674050.1

Allele description [Variation Report for NM_000282.4(PCCA):c.2040+9TG[5]]

NM_000282.4(PCCA):c.2040+9TG[5]

Gene:
PCCA:propionyl-CoA carboxylase subunit alpha [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q32.3
Genomic location:
Preferred name:
NM_000282.4(PCCA):c.2040+9TG[5]
HGVS:
  • NC_000013.11:g.100515577_100515578GT[5]
  • NG_008768.1:g.431495_431496GT[5]
  • NM_000282.4:c.2040+9TG[5]MANE SELECT
  • NM_001127692.2:c.1962+9TG[5]
  • NM_001178004.1:c.1900-12099TG[5]
  • NM_001352605.2:c.1986+9TG[5]
  • NM_001352606.2:c.1896+9TG[5]
  • NM_001352607.2:c.1822-12099TG[5]
  • NM_001352608.2:c.1818+9TG[5]
  • NM_001352610.2:c.1095+9TG[5]
  • NM_001352611.2:c.1041+9TG[5]
  • NM_001352612.2:c.951+9TG[5]
  • NC_000013.10:g.101167831_101167832GT[5]
  • NM_000282.3:c.2040+16_2040+17dupGT
  • NM_000282.3:c.2040+16_2040+17dupGT
Links:
dbSNP: rs751014655
NCBI 1000 Genomes Browser:
rs751014655
Molecular consequence:
  • NM_000282.4:c.2040+9TG[5] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127692.2:c.1962+9TG[5] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001178004.1:c.1900-12099TG[5] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352605.2:c.1986+9TG[5] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352606.2:c.1896+9TG[5] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352607.2:c.1822-12099TG[5] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352608.2:c.1818+9TG[5] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352610.2:c.1095+9TG[5] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352611.2:c.1041+9TG[5] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352612.2:c.951+9TG[5] - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000799323Counsylcriteria provided, single submitter
Likely benign
(Apr 9, 2018)
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 Counsyl, SCV000799323.1

#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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