NM_005751.5(AKAP9):c.4175C>T (p.Thr1392Ile) AND Long QT syndrome 11

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 18, 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:: RCV002288380.1

Allele description [Variation Report for NM_005751.5(AKAP9):c.4175C>T (p.Thr1392Ile)]

NM_005751.5(AKAP9):c.4175C>T (p.Thr1392Ile)

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.4175C>T (p.Thr1392Ile)

HGVS:

NC_000007.14:g.92029921C>T
NG_011623.1:g.94047C>T
NM_005751.5:c.4175C>TMANE SELECT
NM_147185.3:c.4175C>T
NP_005742.4:p.Thr1392Ile
NP_005742.4:p.Thr1392Ile
NP_671714.1:p.Thr1392Ile
LRG_331t1:c.4175C>T
LRG_331:g.94047C>T
LRG_331p1:p.Thr1392Ile
NC_000007.13:g.91659235C>T
NM_005751.4:c.4175C>T

Protein change:

T1392I

Molecular consequence:

NM_005751.5:c.4175C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_147185.3:c.4175C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV002580658	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 18, 2022)	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

SCV002580658

MGZ Medical Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 18, 2022)

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	yes	1	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 MGZ Medical Genetics Center, SCV002580658.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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