NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln) AND Cardiovascular phenotype

Germline classification:: Benign (2 submissions)
Last evaluated:: Sep 17, 2012
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:: RCV000248835.3

Allele description [Variation Report for NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln)]

NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

7q21.2

Genomic location:

Preferred name:

NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln)

HGVS:

NC_000007.14:g.92022865_92022867dup
NG_011623.1:g.86991_86993dup
NM_005751.5:c.4004_4006dupMANE SELECT
NM_147185.3:c.4004_4006dup
NP_005742.4:p.Lys1335_Leu1336insGln
NP_671714.1:p.Lys1335_Leu1336insGln
LRG_331t1:c.4003_4004insAAC
LRG_331:g.86991_86993dup
NC_000007.13:g.91652178_91652179insAAC
NC_000007.13:g.91652179_91652181dup
NM_005751.4:c.4003_4004insAAC
NM_005751.4:c.4004_4006dupAAC
p.K1335_L1336insQ

Links:

dbSNP: rs10644111

NCBI 1000 Genomes Browser:

rs10644111

Molecular consequence:

NM_005751.5:c.4004_4006dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_147185.3:c.4004_4006dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV000317529	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Benign (Sep 17, 2012)	germline	clinical testing	Citation Link,
SCV000317648	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Benign (Sep 17, 2012)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000317529

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Benign
(Sep 17, 2012)

germline

clinical testing

Citation Link,

SCV000317648

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Benign
(Sep 17, 2012)

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	2	not provided	not provided	2	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000317529.2

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

From Ambry Genetics, SCV000317648.2

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

Last Updated: Mar 10, 2024

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