NM_000920.3(PC):c.2292C>G (p.Pro764=) AND Pyruvate carboxylase deficiency

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000392379.1

Allele description [Variation Report for NM_000920.3(PC):c.2292C>G (p.Pro764=)]

NM_000920.3(PC):c.2292C>G (p.Pro764=)

Gene:
PC:pyruvate carboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_000920.3(PC):c.2292C>G (p.Pro764=)
HGVS:
  • NC_000011.10:g.66850855G>C
  • NG_008319.1:g.112522C>G
  • NM_000920.3:c.2292C>G
  • NM_001040716.1:c.2292C>G
  • NP_000911.2:p.Pro764=
  • NP_001035806.1:p.Pro764=
  • NC_000011.9:g.66618326G>C
Links:
dbSNP: rs757918962
NCBI 1000 Genomes Browser:
rs757918962
Molecular consequence:
  • NM_001040716.1:c.2292C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Pyruvate carboxylase deficiency
Synonyms:
ATAXIA WITH LACTIC ACIDOSIS II; Pyruvate Carboxylase Deficiency Disease
Identifiers:
MedGen: C0034341; Orphanet: 3008; OMIM: 266150

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000373458Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000373458.2

#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: Mar 30, 2019

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