NM_001040716.1(PC):c.3359_3362dup (p.Ile1123Argfs) AND Pyruvate carboxylase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Nov 17, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000670832.1

Allele description [Variation Report for NM_001040716.1(PC):c.3359_3362dup (p.Ile1123Argfs)]

NM_001040716.1(PC):c.3359_3362dup (p.Ile1123Argfs)

Gene:
PC:pyruvate carboxylase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_001040716.1(PC):c.3359_3362dup (p.Ile1123Argfs)
HGVS:
  • NC_000011.10:g.66849074_66849077dup
  • NG_008319.1:g.114300_114303dup
  • NM_000920.3:c.3359_3362dup
  • NM_001040716.1:c.3359_3362dup
  • NP_000911.2:p.Ile1123Argfs
  • NP_001035806.1:p.Ile1123Argfs
  • NC_000011.9:g.66616545_66616548dup
  • NM_000920.3:c.3359_3362dupTGAT
Links:
dbSNP: rs1555013840
NCBI 1000 Genomes Browser:
rs1555013840
Molecular consequence:
  • NM_001040716.1:c.3359_3362dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000795740Counsylcriteria provided, single submitter
Likely pathogenic
(Nov 17, 2017)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.

Wang D, Yang H, De Braganca KC, Lu J, Yu Shih L, Briones P, Lang T, De Vivo DC.

Mol Genet Metab. 2008 Sep-Oct;95(1-2):31-8. doi: 10.1016/j.ymgme.2008.06.006. Epub 2008 Aug 3.

PubMed [citation]
PMID:
18676167
PMCID:
PMC2572257

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency.

Ostergaard E, Duno M, Møller LB, Kalkanoglu-Sivri HS, Dursun A, Aliefendioglu D, Leth H, Dahl M, Christensen E, Wibrand F.

JIMD Rep. 2013;9:1-5. doi: 10.1007/8904_2012_173. Epub 2012 Aug 31.

PubMed [citation]
PMID:
23430542
PMCID:
PMC3565670

Details of each submission

From Counsyl, SCV000795740.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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