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NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) AND AKT3-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 7, 2022
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:
RCV004532479.2

Allele description [Variation Report for NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)]

NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)

Gene:
AKT3:AKT serine/threonine kinase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q44
Genomic location:
Preferred name:
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
HGVS:
  • NC_000001.11:g.243505296G>A
  • NG_029764.2:g.350784C>T
  • NM_001206729.2:c.1355-5510C>T
  • NM_001370074.1:c.1393C>T
  • NM_005465.7:c.1393C>TMANE SELECT
  • NM_005465.7:c.1393C>T
  • NM_181690.2:c.1355-5510C>T
  • NP_001357003.1:p.Arg465Trp
  • NP_005456.1:p.Arg465Trp
  • LRG_1396t1:c.1393C>T
  • LRG_1396:g.350784C>T
  • LRG_1396p1:p.Arg465Trp
  • NC_000001.10:g.243668598G>A
  • NM_005465.4:c.1393C>T
  • Q9Y243:p.Arg465Trp
Protein change:
R465W; ARG465TRP
Links:
UniProtKB: Q9Y243#VAR_069261; OMIM: 611223.0001; dbSNP: rs587776935
NCBI 1000 Genomes Browser:
rs587776935
Molecular consequence:
  • NM_001206729.2:c.1355-5510C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181690.2:c.1355-5510C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370074.1:c.1393C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005465.7:c.1393C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
AKT3-related disorder
Synonyms:
AKT3-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004119597PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 7, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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 PreventionGenetics, part of Exact Sciences, SCV004119597.1

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

Description

The AKT3 c.1393C>T variant is predicted to result in the amino acid substitution p.Arg465Trp. This variant has been reported de novo in multiple individuals with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (Rivière et al. 2012. PMID: 22729224, Table 1 Alacantara et al. 2017. PMID: 28969385, eTable 3 Meng et al. 2017. PMID: 28973083, S Table 1 Tumiene et al. 2018. PMID: 29286531, Table 1 Lin et al. 2020 PMID: 33176815, Results section 3.3.2 Moirangthem et al 2021 PMID: 33942996.) This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

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

Last Updated: Nov 10, 2024