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NM_022172.2(PC):c.[2095G>A];[2095G>T] AND Pyruvate carboxylase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 5, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000207120.2

Allele description [Variation Report for NM_022172.2(PC):c.[2095G>A];[2095G>T]]

NM_001040716.2(PC):c.2095G>A (p.Val699Met)

Gene:
PC:pyruvate carboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_001040716.2(PC):c.2095G>A (p.Val699Met)
HGVS:
  • NC_000011.10:g.66851168C>T
  • NG_008319.1:g.112209G>A
  • NM_000920.3:c.2095G>A
  • NM_000920.4:c.2095G>A
  • NM_001040716.2:c.2095G>AMANE SELECT
  • NM_022172.3:c.2095G>A
  • NP_000911.2:p.Val699Met
  • NP_001035806.1:p.Val699Met
  • NP_071504.2:p.Val699Met
  • NC_000011.9:g.66618639C>T
  • NM_022172.2:c.2095G>A
Protein change:
V699M
Links:
dbSNP: rs760108147
NCBI 1000 Genomes Browser:
rs760108147
Molecular consequence:
  • NM_000920.4:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040716.2:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022172.3:c.2095G>A - missense variant - [Sequence Ontology: SO:0001583]

NM_001040716.2(PC):c.2095G>T (p.Val699Leu)

Gene:
PC:pyruvate carboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_001040716.2(PC):c.2095G>T (p.Val699Leu)
HGVS:
  • NC_000011.10:g.66851168C>A
  • NG_008319.1:g.112209G>T
  • NM_000920.4:c.2095G>T
  • NM_001040716.2:c.2095G>TMANE SELECT
  • NM_022172.3:c.2095G>T
  • NP_000911.2:p.Val699Leu
  • NP_001035806.1:p.Val699Leu
  • NP_071504.2:p.Val699Leu
  • NC_000011.9:g.66618639C>A
  • NM_022172.2:c.2095G>T
Protein change:
V699L
Links:
dbSNP: rs760108147
NCBI 1000 Genomes Browser:
rs760108147
Molecular consequence:
  • NM_000920.4:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040716.2:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022172.3:c.2095G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pyruvate carboxylase deficiency
Synonyms:
ATAXIA WITH LACTIC ACIDOSIS II; PC deficiency; Ataxia with lactic acidosis 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009949; MedGen: C0034341; Orphanet: 3008; OMIM: 266150

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000257541Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
no assertion criteria provided
Likely pathogenic
(Nov 5, 2014) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indiangermlineyes21not providednot providednot providedclinical testing

Details of each submission

From Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV000257541.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian1not providednot providedclinical testingnot provided

Description

Previous child expired with mitochondrial disorder and showcased symptoms like increased serum lactate, alanine and tyrosine; had brown hair and suffered from severe acidosis; vomiting, convulsions from 3 months of age; cardiac arrest and died at 3 years. Both the mutations were likely to be pathogenic by online software including MutationTaster, SIFT and Polyphen.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: May 1, 2024