U.S. flag

An official website of the United States government

NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 2021
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:
RCV004018881.1

Allele description [Variation Report for NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val)]

NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val)

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.1315A>G (p.Ile439Val)
Other names:
p.I439V:ATA>GTA
HGVS:
  • NC_000007.14:g.151565804T>C
  • NG_007486.2:g.316428A>G
  • NM_001040633.2:c.1183A>G
  • NM_001304527.2:c.940A>G
  • NM_001304531.2:c.592A>G
  • NM_001363698.2:c.943A>G
  • NM_016203.4:c.1315A>GMANE SELECT
  • NM_024429.2:c.592A>G
  • NP_001035723.1:p.Ile395Val
  • NP_001291456.1:p.Ile314Val
  • NP_001291460.1:p.Ile198Val
  • NP_001350627.1:p.Ile315Val
  • NP_057287.2:p.Ile439Val
  • NP_077747.1:p.Ile198Val
  • LRG_430t1:c.1315A>G
  • LRG_430:g.316428A>G
  • LRG_430p1:p.Ile439Val
  • NC_000007.13:g.151262890T>C
  • NG_007486.1:g.316427A>G
  • NM_016203.3:c.1315A>G
  • c.1315A>G
Protein change:
I198V
Links:
dbSNP: rs370257703
NCBI 1000 Genomes Browser:
rs370257703
Molecular consequence:
  • NM_001040633.2:c.1183A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304527.2:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304531.2:c.592A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363698.2:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016203.4:c.1315A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024429.2:c.592A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005010962Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Sep 16, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV005010962.1

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

Description

The c.1315A>G (p.I439V) alteration is located in exon 12 (coding exon 12) of the PRKAG2 gene. This alteration results from a A to G substitution at nucleotide position 1315, causing the isoleucine (I) at amino acid position 439 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024