NM_016203.3(PRKAG2):c.1199C>A (p.Thr400Asn) AND Familial hypertrophic cardiomyopathy 6

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2002)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000007252.6

Allele description [Variation Report for NM_016203.3(PRKAG2):c.1199C>A (p.Thr400Asn)]

NM_016203.3(PRKAG2):c.1199C>A (p.Thr400Asn)

Gene:
PRKAG2:protein kinase AMP-activated non-catalytic subunit gamma 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_016203.3(PRKAG2):c.1199C>A (p.Thr400Asn)
HGVS:
  • NC_000007.14:g.151568750G>T
  • NG_007486.1:g.313481C>A
  • NM_016203.3:c.1199C>A
  • NP_057287.2:p.Thr400Asn
  • NC_000007.13:g.151265836G>T
  • Q9UGJ0:p.Thr400Asn
  • c.1199C>A
Protein change:
T400N; THR400ASN
Links:
UniProtKB: Q9UGJ0#VAR_013267; OMIM: 602743.0004; dbSNP: 28938173
NCBI 1000 Genomes Browser:
rs28938173
Molecular consequence:
  • NM_016203.3:c.1199C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypertrophic cardiomyopathy 6 (CMH6)
Identifiers:
MedGen: C1833236; OMIM: 600858

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000027448OMIMno assertion criteria providedPathogenic
(Feb 1, 2002)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.

Arad M, Benson DW, Perez-Atayde AR, McKenna WJ, Sparks EA, Kanter RJ, McGarry K, Seidman JG, Seidman CE.

J Clin Invest. 2002 Feb;109(3):357-62.

PubMed [citation]
PMID:
11827995
PMCID:
PMC150860

Details of each submission

From OMIM, SCV000027448.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 42-year-old woman with cardiac hypertrophy associated with Wolff-Parkinson-White ventricular preexcitation and sinus bradycardia requiring pacemaker implantation (CMH6; 600858), Arad et al. (2002) identified heterozygosity for a 1289C-A transversion in the PRKAG2 gene, resulting in a thr400-to-asn (T400N) substitution at a highly conserved residue. The mutation was not found in her unaffected mother or sister or in 200 control samples; no DNA was available from her deceased and reportedly unaffected father.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 9, 2018