NM_000282.4(PCCA):c.120T>C (p.Tyr40=) AND Propionic acidemia

Clinical significance:Uncertain significance (Last evaluated: Apr 17, 2020)

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:
RCV001279940.1

Allele description [Variation Report for NM_000282.4(PCCA):c.120T>C (p.Tyr40=)]

NM_000282.4(PCCA):c.120T>C (p.Tyr40=)

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.120T>C (p.Tyr40=)
HGVS:
  • NC_000013.11:g.100102897T>C
  • NG_008768.1:g.18815T>C
  • NM_000282.4:c.120T>CMANE SELECT
  • NM_001127692.3:c.106-8944T>C
  • NM_001178004.2:c.120T>C
  • NM_001352605.2:c.120T>C
  • NM_001352606.2:c.120T>C
  • NM_001352607.2:c.106-8944T>C
  • NM_001352608.2:c.106-8944T>C
  • NM_001352609.2:c.120T>C
  • NM_001352610.2:c.-747T>C
  • NM_001352611.2:c.-747T>C
  • NM_001352612.2:c.-747T>C
  • NP_000273.2:p.Tyr40=
  • NP_001171475.1:p.Tyr40=
  • NP_001339534.1:p.Tyr40=
  • NP_001339535.1:p.Tyr40=
  • NP_001339538.1:p.Tyr40=
  • NC_000013.10:g.100755151T>C
  • NR_148027.2:n.148T>C
  • NR_148028.2:n.148T>C
  • NR_148030.2:n.148T>C
  • NR_148031.2:n.148T>C
Molecular consequence:
  • NM_001352610.2:c.-747T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352611.2:c.-747T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352612.2:c.-747T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001127692.3:c.106-8944T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352607.2:c.106-8944T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352608.2:c.106-8944T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NR_148027.2:n.148T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148028.2:n.148T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148030.2:n.148T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148031.2:n.148T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000282.4:c.120T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001178004.2:c.120T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352605.2:c.120T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352606.2:c.120T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352609.2:c.120T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001467077Natera, Inc.no assertion criteria providedUncertain significance
(Apr 17, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001467077.1

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

Last Updated: Oct 7, 2021

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