NM_005751.5(AKAP9):c.5227G>A (p.Ala1743Thr) AND Cardiovascular phenotype

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 25, 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:: RCV002338951.1

Allele description

NM_005751.5(AKAP9):c.5227G>A (p.Ala1743Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.2

Genomic location:

Preferred name:

NM_005751.5(AKAP9):c.5227G>A (p.Ala1743Thr)

HGVS:

NC_000007.14:g.92045072G>A
NG_011623.1:g.109198G>A
NM_005751.5:c.5227G>AMANE SELECT
NM_147185.3:c.5227G>A
NP_005742.4:p.Ala1743Thr
NP_005742.4:p.Ala1743Thr
NP_671714.1:p.Ala1743Thr
LRG_331t1:c.5227G>A
LRG_331:g.109198G>A
LRG_331p1:p.Ala1743Thr
NC_000007.13:g.91674386G>A
NM_005751.4:c.5227G>A

Protein change:

A1743T

Links:

dbSNP: rs769653270

NCBI 1000 Genomes Browser:

rs769653270

Molecular consequence:

NM_005751.5:c.5227G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_147185.3:c.5227G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002640635	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Jan 25, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002640635

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Jan 25, 2021)

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	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002640635.1

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

Description

The p.A1743T variant (also known as c.5227G>A), located in coding exon 21 of the AKAP9 gene, results from a G to A substitution at nucleotide position 5227. The alanine at codon 1743 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Feb 20, 2024

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