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NM_002591.3(PCK1):c.1642G>A (p.Ala548Thr)

Variation ID: Help
338891
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Jun 14, 2016
Number of submission(s):
1
Condition(s):
Phosphoenolpyruvate carboxykinase (GTP) deficiency[MedGen - Orphanet]
See supporting ClinVar records

Allele(s) Help

NM_002591.3(PCK1):c.1642G>A (p.Ala548Thr)

Allele ID:
350162
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.31
Genomic location:
  • Chr20: 57565577 (on Assembly GRCh38)
  • Chr20: 56140633 (on Assembly GRCh37)
Protein change:
A548T
HGVS:
  • NG_008205.1:g.9497G>A
  • NM_002591.3:c.1642G>A
  • NP_002582.3:p.Ala548Thr
  • NC_000020.11:g.57565577G>A (GRCh38)
  • NC_000020.10:g.56140633G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs148684857
Molecular consequence:
NM_002591.3:c.1642G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00060 (A)
  • 1000 Genomes Project 0.00060
  • Exome Aggregation Consortium (ExAC) 0.00148
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00223
  • The Genome Aggregation Database (gnomAD) 0.00126
  • The Genome Aggregation Database (gnomAD), exomes 0.00149
  • Trans-Omics for Precision Medicine (TOPMed) 0.00150

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
clinical testing
  • Phosphoenolpyruvate carboxykinase (GTP) deficiency[MedGen | Orphanet]
germline
    Illumina Clinical Services Laboratory,IlluminaSCV000434508.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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