NM_000282.4(PCCA):c.1176C>T (p.Asn392=) AND not specified

Clinical significance:Likely benign (Last evaluated: Jul 17, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000282.4(PCCA):c.1176C>T (p.Asn392=)]

NM_000282.4(PCCA):c.1176C>T (p.Asn392=)

PCCA:propionyl-CoA carboxylase subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000282.4(PCCA):c.1176C>T (p.Asn392=)
  • NC_000013.11:g.100301570C>T
  • NG_008768.1:g.217488C>T
  • NM_000282.4:c.1176C>TMANE SELECT
  • NM_001127692.2:c.1098C>T
  • NM_001178004.1:c.1176C>T
  • NM_001352605.2:c.1176C>T
  • NM_001352606.2:c.1066-1354C>T
  • NM_001352607.2:c.1098C>T
  • NM_001352608.2:c.988-1354C>T
  • NM_001352609.2:c.1176C>T
  • NM_001352610.2:c.231C>T
  • NM_001352611.2:c.231C>T
  • NM_001352612.2:c.121-1354C>T
  • NP_000273.2:p.Asn392=
  • NP_001121164.1:p.Asn366=
  • NP_001171475.1:p.Asn392=
  • NP_001339534.1:p.Asn392=
  • NP_001339536.1:p.Asn366=
  • NP_001339538.1:p.Asn392=
  • NP_001339539.1:p.Asn77=
  • NP_001339540.1:p.Asn77=
  • NC_000013.10:g.100953824C>T
  • NM_000282.3:c.1176C>T
  • NR_148027.2:n.1204C>T
  • NR_148028.2:n.1204C>T
  • NR_148029.2:n.1126C>T
  • NR_148030.2:n.1204C>T
  • NR_148031.2:n.1204C>T
dbSNP: rs138597181
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001352606.2:c.1066-1354C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352608.2:c.988-1354C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001352612.2:c.121-1354C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_148027.2:n.1204C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148028.2:n.1204C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148029.2:n.1126C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148030.2:n.1204C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148031.2:n.1204C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000282.4:c.1176C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127692.2:c.1098C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001178004.1:c.1176C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352605.2:c.1176C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352607.2:c.1098C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352609.2:c.1176C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352610.2:c.231C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352611.2:c.231C>T - synonymous variant - [Sequence Ontology: SO:0001819]


MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000721237GeneDxcriteria provided, single submitter
Likely benign
(Jul 17, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000721237.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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