NM_005465.7(AKT3):c.173-207_173-203dup AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 5, 2018
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:: RCV001581497.3

Allele description [Variation Report for NM_005465.7(AKT3):c.173-207_173-203dup]

NM_005465.7(AKT3):c.173-207_173-203dup

Gene:

AKT3:AKT serine/threonine kinase 3 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q44

Genomic location:

Preferred name:

NM_005465.7(AKT3):c.173-207_173-203dup

HGVS:

NC_000001.11:g.243665089_243665093dup
NG_029764.2:g.190990_190994dup
NM_001206729.2:c.173-207_173-203dup
NM_001370074.1:c.173-207_173-203dup
NM_005465.7:c.173-207_173-203dupMANE SELECT
NM_181690.2:c.173-207_173-203dup
LRG_1396t1:c.173-207_173-203dup
LRG_1396:g.190990_190994dup
NC_000001.10:g.243828391_243828395dup

Links:

dbSNP: rs575712898

NCBI 1000 Genomes Browser:

rs575712898

Molecular consequence:

NM_001206729.2:c.173-207_173-203dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001370074.1:c.173-207_173-203dup - intron variant - [Sequence Ontology: SO:0001627]
NM_005465.7:c.173-207_173-203dup - intron variant - [Sequence Ontology: SO:0001627]
NM_181690.2:c.173-207_173-203dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001813167	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Dec 5, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001813167

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Dec 5, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001813167.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Dec 24, 2023

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