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NM_016203.4(PRKAG2):c.1022T>C (p.Leu341Ser) AND Hypertrophic cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 31, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000768490.2

Allele description [Variation Report for NM_016203.4(PRKAG2):c.1022T>C (p.Leu341Ser)]

NM_016203.4(PRKAG2):c.1022T>C (p.Leu341Ser)

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.1022T>C (p.Leu341Ser)
HGVS:
  • NC_000007.14:g.151572693A>G
  • NG_007486.1:g.309538T>C
  • NG_007486.2:g.309539T>C
  • NM_001040633.2:c.890T>C
  • NM_001304527.2:c.647T>C
  • NM_001304531.2:c.299T>C
  • NM_001363698.2:c.650T>C
  • NM_016203.4:c.1022T>CMANE SELECT
  • NM_024429.2:c.299T>C
  • NP_001035723.1:p.Leu297Ser
  • NP_001291456.1:p.Leu216Ser
  • NP_001291460.1:p.Leu100Ser
  • NP_001350627.1:p.Leu217Ser
  • NP_057287.2:p.Leu341Ser
  • NP_077747.1:p.Leu100Ser
  • LRG_430t1:c.1022T>C
  • LRG_430:g.309539T>C
  • LRG_430p1:p.Leu341Ser
  • NC_000007.13:g.151269779A>G
  • NM_016203.3:c.1022T>C
Protein change:
L100S
Links:
dbSNP: rs1563161306
NCBI 1000 Genomes Browser:
rs1563161306
Molecular consequence:
  • NM_001040633.2:c.890T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304527.2:c.647T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304531.2:c.299T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363698.2:c.650T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016203.4:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024429.2:c.299T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hypertrophic cardiomyopathy
Synonyms:
HYPERTROPHIC MYOCARDIOPATHY
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000886794Center for Human Genetics, University of Leuven
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 31, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot provided1not providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Human Genetics, University of Leuven, SCV000886794.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot provided1not provided

Last Updated: Dec 11, 2022