NM_002734.5(PRKAR1A):c.*587dup AND Carney complex

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000350584.5

Allele description [Variation Report for NM_002734.5(PRKAR1A):c.*587dup]

NM_002734.5(PRKAR1A):c.*587dup

Gene:

PRKAR1A:protein kinase cAMP-dependent type I regulatory subunit alpha [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q24.2

Genomic location:

Preferred name:

NM_002734.5(PRKAR1A):c.*587dup

HGVS:

NC_000017.11:g.68531036dup
NG_007093.3:g.122414dup
NM_001276289.2:c.*587dup
NM_001276290.1:c.973+1035dup
NM_001278433.2:c.*587dup
NM_001369389.1:c.*587dup
NM_001369390.1:c.*587dup
NM_002734.5:c.*587dupMANE SELECT
NM_212471.3:c.*587dup
NM_212472.2:c.*587dup
LRG_514t2:c.*587dup
LRG_514:g.122414dup
NC_000017.10:g.66527177dup
NM_002734.4:c.*587dupT

Links:

dbSNP: rs398041821

NCBI 1000 Genomes Browser:

rs398041821

Molecular consequence:

NM_001276289.2:c.*587dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001278433.2:c.*587dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369389.1:c.*587dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369390.1:c.*587dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_002734.5:c.*587dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_212471.3:c.*587dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_212472.2:c.*587dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276290.1:c.973+1035dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Carney complex
Synonyms:: Carney syndrome; Myxoma, spotty pigmentation, and endocrine overactivity
Identifiers:: MONDO: MONDO:0015285; MedGen: C0406810

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000405901	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000405901

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000405901.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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