NM_000920.3(PC):c.2493_2494delGT (p.Phe832Terfs) AND Pyruvate carboxylase deficiency

Clinical significance:Pathogenic (Last evaluated: Jan 25, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000672343.1

Allele description [Variation Report for NM_000920.3(PC):c.2493_2494delGT (p.Phe832Terfs)]

NM_000920.3(PC):c.2493_2494delGT (p.Phe832Terfs)

Gene:
PC:pyruvate carboxylase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_000920.3(PC):c.2493_2494delGT (p.Phe832Terfs)
HGVS:
  • NC_000011.10:g.66850444_66850445del
  • NG_008319.1:g.112932_112933del
  • NM_000920.3:c.2493_2494delGT
  • NM_001040716.1:c.2493_2494del
  • NP_000911.2:p.Phe832Terfs
  • NP_001035806.1:p.Phe832Terfs
  • NC_000011.9:g.66617915_66617916del
  • NM_000920.3:c.2493_2494del
Links:
dbSNP: rs756355930
NCBI 1000 Genomes Browser:
rs756355930
Molecular consequence:
  • NM_001040716.1:c.2493_2494del - 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
SCV000797440Counsylcriteria provided, single submitter
Pathogenic
(Jan 25, 2018)
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

Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.

Carbone MA, Applegarth DA, Robinson BH.

Hum Mutat. 2002 Jul;20(1):48-56.

PubMed [citation]
PMID:
12112657

Details of each submission

From Counsyl, SCV000797440.1

#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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