NM_002734.5(PRKAR1A):c.763_766del (p.Ser254_Ile255insTer) AND Carney complex, type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 30, 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:: RCV002885197.3

Allele description [Variation Report for NM_002734.5(PRKAR1A):c.763_766del (p.Ser254_Ile255insTer)]

NM_002734.5(PRKAR1A):c.763_766del (p.Ser254_Ile255insTer)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q24.2

Genomic location:

Preferred name:

NM_002734.5(PRKAR1A):c.763_766del (p.Ser254_Ile255insTer)

HGVS:

NC_000017.11:g.68527894_68527897del
NG_007093.3:g.119272_119275del
NM_001276289.2:c.763_766del
NM_001276290.1:c.763_766del
NM_001278433.2:c.763_766del
NM_001369389.1:c.763_766del
NM_001369390.1:c.763_766del
NM_002734.5:c.763_766delMANE SELECT
NM_212471.3:c.763_766del
NM_212472.2:c.763_766del
NP_001263218.1:p.Ser254_Ile255insTer
NP_001263219.1:p.Ser254_Ile255insTer
NP_001265362.1:p.Ser254_Ile255insTer
NP_001356318.1:p.Ser254_Ile255insTer
NP_001356319.1:p.Ser254_Ile255insTer
NP_002725.1:p.Ile255Terfs
NP_002725.1:p.Ser254_Ile255insTer
NP_997636.1:p.Ser254_Ile255insTer
NP_997637.1:p.Ser254_Ile255insTer
LRG_514t1:c.763_766del
LRG_514t2:c.763_766del
LRG_514:g.119272_119275del
LRG_514p1:p.Ile255Terfs
LRG_514p2:p.Ser254_Ile255insTer
NC_000017.10:g.66524034_66524037del
NC_000017.10:g.66524035_66524038del
NM_002734.4:c.763_766delATTT

Molecular consequence:

NM_001276289.2:c.763_766del - nonsense - [Sequence Ontology: SO:0001587]
NM_001276290.1:c.763_766del - nonsense - [Sequence Ontology: SO:0001587]
NM_001278433.2:c.763_766del - nonsense - [Sequence Ontology: SO:0001587]
NM_001369389.1:c.763_766del - nonsense - [Sequence Ontology: SO:0001587]
NM_001369390.1:c.763_766del - nonsense - [Sequence Ontology: SO:0001587]
NM_002734.5:c.763_766del - nonsense - [Sequence Ontology: SO:0001587]
NM_212471.3:c.763_766del - nonsense - [Sequence Ontology: SO:0001587]
NM_212472.2:c.763_766del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Carney complex, type 1 (CNC1)
Synonyms:: CARNEY MYXOMA-ENDOCRINE COMPLEX
Identifiers:: MONDO: MONDO:0008057; MedGen: C2607929; Orphanet: 1359; OMIM: 160980

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003237925	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 30, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 11115848, 19293268, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003237925

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 30, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex.

Kirschner LS, Sandrini F, Monbo J, Lin JP, Carney JA, Stratakis CA.

Hum Mol Genet. 2000 Dec 12;9(20):3037-46.

PubMed [citation]

PMID:: 11115848

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.

Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA.

J Clin Endocrinol Metab. 2009 Jun;94(6):2085-91. doi: 10.1210/jc.2008-2333. Epub 2009 Mar 17.

PubMed [citation]

PMID:: 19293268
PMCID:: PMC2690418

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003237925.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Ile255*) in the PRKAR1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRKAR1A are known to be pathogenic (PMID: 11115848, 19293268). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PRKAR1A-related conditions. This variant is not present in population databases (gnomAD no frequency).

#	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 29, 2024

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