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NM_016203.4(PRKAG2):c.1030C>T (p.His344Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 3, 2013
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:
RCV000223800.1

Allele description [Variation Report for NM_016203.4(PRKAG2):c.1030C>T (p.His344Tyr)]

NM_016203.4(PRKAG2):c.1030C>T (p.His344Tyr)

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_016203.4(PRKAG2):c.1030C>T (p.His344Tyr)
HGVS:
  • NC_000007.14:g.151572685G>A
  • NG_007486.1:g.309546C>T
  • NG_007486.2:g.309547C>T
  • NM_001040633.2:c.898C>T
  • NM_001304527.2:c.655C>T
  • NM_001304531.2:c.307C>T
  • NM_001363698.2:c.658C>T
  • NM_016203.4:c.1030C>TMANE SELECT
  • NM_024429.2:c.307C>T
  • NP_001035723.1:p.His300Tyr
  • NP_001291456.1:p.His219Tyr
  • NP_001291460.1:p.His103Tyr
  • NP_001350627.1:p.His220Tyr
  • NP_057287.2:p.His344Tyr
  • NP_077747.1:p.His103Tyr
  • LRG_430t1:c.1030C>T
  • LRG_430:g.309547C>T
  • LRG_430p1:p.His344Tyr
  • NC_000007.13:g.151269771G>A
  • NM_016203.3:c.1030C>T
Protein change:
H103Y
Links:
dbSNP: rs727504392
NCBI 1000 Genomes Browser:
rs727504392
Molecular consequence:
  • NM_001040633.2:c.898C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304527.2:c.655C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304531.2:c.307C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363698.2:c.658C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016203.4:c.1030C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024429.2:c.307C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000280422Stanford Center for Inherited Cardiovascular Disease, Stanford University
no assertion criteria provided
Uncertain significance
(Nov 3, 2013) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot providednot providednot providedclinical testing

Details of each submission

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000280422.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. p.His344Tyr (aka H344Y c.1030C>T) in PRKAG2. The variant is novel. This is a non-conservative amino acid change with a positively charged histidine residue being changed to an uncharged tyrosine. In silico analysis with PolyPhen-2 predicts the variant to be possibly damaging. The histidine at codon 344 is conserved across species, as are neighboring amino acids. I was unable to find other variants at or near this codon associated with disease (however there is no large database of PRKAG2 variants). In total the variant has not been seen in ~6300 publicly available population datasets. There is no variation at codon 344 listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~6300 Caucasian and African American individuals (as of October 4th, 2012). Of note, there is no non-synonymous variation from codon 263 to 419, suggesting that this region is critical for function of the kinase. There is also no variation at this codon listed in dbSNP or 1000 genomes (as of October 3rd 2012).

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

Last Updated: Dec 24, 2022