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NM_016203.4(PRKAG2):c.359G>A (p.Arg120His) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 8, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV003480704.2

Allele description [Variation Report for NM_016203.4(PRKAG2):c.359G>A (p.Arg120His)]

NM_016203.4(PRKAG2):c.359G>A (p.Arg120His)

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.359G>A (p.Arg120His)
Other names:
p.Arg120His
HGVS:
  • NC_000007.14:g.151781259C>T
  • NG_007486.2:g.100973G>A
  • NM_001040633.2:c.227G>A
  • NM_016203.4:c.359G>AMANE SELECT
  • NP_001035723.1:p.Arg76His
  • NP_057287.2:p.Arg120His
  • LRG_430t1:c.359G>A
  • LRG_430:g.100973G>A
  • LRG_430p1:p.Arg120His
  • NC_000007.13:g.151478345C>T
  • NG_007486.1:g.100972G>A
  • NM_016203.3:c.359G>A
Protein change:
R120H
Links:
dbSNP: rs775756069
NCBI 1000 Genomes Browser:
rs775756069
Molecular consequence:
  • NM_001040633.2:c.227G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016203.4:c.359G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004224124Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 24, 2022) 		germlineclinical testing

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

SCV004565315ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Uncertain significance
(Aug 8, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot 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 Mayo Clinic Laboratories, Mayo Clinic, SCV004224124.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

PM2

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004565315.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The PRKAG2 c.359G>A; p.Arg120His variant (rs775756069) is reported in the literature in an individual affected with Wolff-Parkinson-White syndrome, although it was not demonstrated to be disease-causing (Coban-Akdemir 2020). This variant is found in the Latino population with an allele frequency of 0.08% (28/34,584 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.532). Due to limited information, the clinical significance of the p.Arg120His variant is uncertain at this time. References: Coban-Akdemir ZH et al. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 Jun;182(6):1387-1399. PMID: 32233023.

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

Last Updated: May 7, 2024