NM_000282.4(PCCA):c.947T>G (p.Met316Arg) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jan 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000597665.1

Allele description [Variation Report for NM_000282.4(PCCA):c.947T>G (p.Met316Arg)]

NM_000282.4(PCCA):c.947T>G (p.Met316Arg)

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.947T>G (p.Met316Arg)
HGVS:
  • NC_000013.11:g.100273228T>G
  • NG_008768.1:g.189146T>G
  • NM_000282.4:c.947T>GMANE SELECT
  • NM_001127692.2:c.869T>G
  • NM_001178004.1:c.947T>G
  • NM_001352605.2:c.947T>G
  • NM_001352606.2:c.947T>G
  • NM_001352607.2:c.869T>G
  • NM_001352608.2:c.869T>G
  • NM_001352609.2:c.947T>G
  • NM_001352610.2:c.2T>G
  • NM_001352611.2:c.2T>G
  • NM_001352612.2:c.2T>G
  • NP_000273.2:p.Met316Arg
  • NP_001121164.1:p.Met290Arg
  • NP_001171475.1:p.Met316Arg
  • NP_001339534.1:p.Met316Arg
  • NP_001339535.1:p.Met316Arg
  • NP_001339536.1:p.Met290Arg
  • NP_001339537.1:p.Met290Arg
  • NP_001339538.1:p.Met316Arg
  • NP_001339539.1:p.Met1Arg
  • NP_001339540.1:p.Met1Arg
  • NP_001339541.1:p.Met1Arg
  • NC_000013.10:g.100925482T>G
  • NR_148027.2:n.975T>G
  • NR_148028.2:n.975T>G
  • NR_148029.2:n.897T>G
  • NR_148030.2:n.975T>G
  • NR_148031.2:n.975T>G
Protein change:
M1R
Links:
dbSNP: rs137861347
NCBI 1000 Genomes Browser:
rs137861347
Molecular consequence:
  • NM_001352610.2:c.2T>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001352611.2:c.2T>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001352612.2:c.2T>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_000282.4:c.947T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127692.2:c.869T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178004.1:c.947T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352605.2:c.947T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352606.2:c.947T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352607.2:c.869T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352608.2:c.869T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352609.2:c.947T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352610.2:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352611.2:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352612.2:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148027.2:n.975T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148028.2:n.975T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148029.2:n.897T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148030.2:n.975T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148031.2:n.975T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000703948EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely pathogenic
(Jan 12, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000703948.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 30, 2020

Support Center