NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 4, 2017
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:: RCV000622431.10

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]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Catostomus bondi ATP6 gene, partial cds; mitochondrial
Catostomus bondi ATP6 gene, partial cds; mitochondrial
gi|2691768444|gb|OR567823.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000742941	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Oct 4, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 22729224, 28969385 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000742941

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Oct 4, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Danish/Irish/Welsh/German/Canadian	germline	yes	1	not provided	not provided	1	not provided	clinical testing
Eastern European/Russian/Lithuanian/Czech/English	germline	yes	1	not provided	not provided	1	not provided	clinical testing
El Salvadorian/Italian/Irish	germline	yes	1	not provided	not provided	1	not provided	clinical testing
Hispanic	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, et al.

Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331.

PubMed [citation]

PMID:: 22729224
PMCID:: PMC3408813

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, et al.

Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203.

PubMed [citation]

PMID:: 28969385
PMCID:: PMC6080423

Details of each submission

From Ambry Genetics, SCV000742941.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Danish/Irish/Welsh/German/Canadian	1	not provided	not provided	clinical testing	PubMed (2)
2	Eastern European/Russian/Lithuanian/Czech/English	1	not provided	not provided	clinical testing	PubMed (2)
3	El Salvadorian/Italian/Irish	1	not provided	not provided	clinical testing	PubMed (2)
4	Hispanic	1	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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