NM_002734.5(PRKAR1A):c.796dup (p.Thr266fs) AND Carney complex, type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 12, 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:: RCV003516380.2

Allele description [Variation Report for NM_002734.5(PRKAR1A):c.796dup (p.Thr266fs)]

NM_002734.5(PRKAR1A):c.796dup (p.Thr266fs)

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.796dup (p.Thr266fs)

HGVS:

NC_000017.11:g.68528896dup
NG_007093.3:g.120274dup
NM_001276289.2:c.796dup
NM_001276290.1:c.796dup
NM_001278433.2:c.796dup
NM_001369389.1:c.796dup
NM_001369390.1:c.796dup
NM_002734.5:c.796dupMANE SELECT
NM_212471.3:c.796dup
NM_212472.2:c.796dup
NP_001263218.1:p.Thr266fs
NP_001263219.1:p.Thr266fs
NP_001265362.1:p.Thr266fs
NP_001356318.1:p.Thr266fs
NP_001356319.1:p.Thr266fs
NP_002725.1:p.Thr266Asnfs
NP_002725.1:p.Thr266fs
NP_997636.1:p.Thr266fs
NP_997637.1:p.Thr266fs
LRG_514t1:c.796dup
LRG_514t2:c.796dup
LRG_514:g.120274dup
LRG_514p1:p.Thr266Asnfs
LRG_514p2:p.Thr266fs
NC_000017.10:g.66525036_66525037insA
NC_000017.10:g.66525037dup
NM_002734.4:c.796dup

Protein change:

T266fs

Molecular consequence:

NM_001276289.2:c.796dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276290.1:c.796dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278433.2:c.796dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369389.1:c.796dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369390.1:c.796dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002734.5:c.796dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_212471.3:c.796dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_212472.2:c.796dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004297516	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 12, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 19539840, 11115848, 19293268, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004297516

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 12, 2022)

germline

clinical testing

PubMed (4)
[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

Carney complex: a clinicopathologic and molecular biological study of a sporadic case, including extracutaneous and cutaneous lesions and a novel mutation of the PRKAR1A gene.

Kacerovska D, Sima R, Michal M, Hes O, Roucka P, Zarybnicka M, Hora M, Chudacek Z, Kazakov DV.

J Am Acad Dermatol. 2009 Jul;61(1):80-7. doi: 10.1016/j.jaad.2008.11.015.

PubMed [citation]

PMID:: 19539840

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

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004297516.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Carney complex (PMID: 19539840). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr266Asnfs*4) 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).

#	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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