NM_005751.5(AKAP9):c.406GAA[2] (p.Glu138del) AND Long QT syndrome 11

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 30, 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:: RCV003228174.1

Allele description [Variation Report for NM_005751.5(AKAP9):c.406GAA[2] (p.Glu138del)]

NM_005751.5(AKAP9):c.406GAA[2] (p.Glu138del)

Gene:

AKAP9:A-kinase anchoring protein 9 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

7q21.2

Genomic location:

Preferred name:

NM_005751.5(AKAP9):c.406GAA[2] (p.Glu138del)

HGVS:

NC_000007.14:g.91992885GAA[2]
NG_011623.1:g.57011GAA[2]
NM_005751.5:c.406GAA[2]MANE SELECT
NM_147185.3:c.406GAA[2]
NP_005742.4:p.Glu138del
NP_005742.4:p.Glu138del
NP_671714.1:p.Glu138del
LRG_331t1:c.406_408GAA[2]
LRG_331:g.57011GAA[2]
LRG_331p1:p.Glu138del
NC_000007.13:g.91622199GAA[2]
NM_005751.4:c.406_408GAA[2]
NM_005751.4:c.412_414delGAA

Protein change:

E138del

Molecular consequence:

NM_005751.5:c.406GAA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_147185.3:c.406GAA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Long QT syndrome 11 (LQT11)
Identifiers:: MONDO: MONDO:0012738; MedGen: C2678483; Orphanet: 101016; Orphanet: 768; OMIM: 611820

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003924211	Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 30, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003924211

Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 30, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV003924211.1

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

Description

AKAP9 NM_005751.4 exon 5 p.Glu138del (c.406_408del): This variant has not been reported in the literature but is present in 0.0008% (1/113486) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/7-91622198-GGAA-G). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents an in-frame deletion of one amino acid at position 138 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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

Last Updated: May 1, 2024

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