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NM_001626.6(AKT2):c.821G>A (p.Arg274His) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 25, 2023
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:
RCV003231106.3

Allele description [Variation Report for NM_001626.6(AKT2):c.821G>A (p.Arg274His)]

NM_001626.6(AKT2):c.821G>A (p.Arg274His)

Gene:
AKT2:AKT serine/threonine kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_001626.6(AKT2):c.821G>A (p.Arg274His)
HGVS:
  • NC_000019.10:g.40237979C>T
  • NG_012038.2:g.52380G>A
  • NM_001243027.3:c.635G>A
  • NM_001243028.3:c.635G>A
  • NM_001330511.1:c.821G>A
  • NM_001626.5:c.821G>A
  • NM_001626.6:c.821G>AMANE SELECT
  • NP_001229956.1:p.Arg212His
  • NP_001229957.1:p.Arg212His
  • NP_001317440.1:p.Arg274His
  • NP_001617.1:p.Arg274His
  • LRG_1391t1:c.821G>A
  • LRG_1391:g.52380G>A
  • LRG_1391p1:p.Arg274His
  • NC_000019.9:g.40743886C>T
  • P31751:p.Arg274His
Protein change:
R212H; ARG274HIS
Links:
UniProtKB: P31751#VAR_067310; OMIM: 164731.0001; dbSNP: rs121434593
NCBI 1000 Genomes Browser:
rs121434593
Molecular consequence:
  • NM_001243027.3:c.635G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243028.3:c.635G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330511.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001626.6:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003929751GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(May 25, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV003929751.1

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

Description

Observed in a family with severe insulin resistance and diabetes mellitus (George et al., 2004); Published functional studies demonstrate a damaging effect to protein function in human liver cells and rat fat cells (George et al., 2004; Chan et al., 2011); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22031698, 19164855, 33901270, 35755045, 35250856, 37105912, 33893069, 15166380)

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

Last Updated: Sep 16, 2024