NM_002734.5(PRKAR1A):c.200A>G (p.Asn67Ser) AND Carney complex, type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 17, 2021
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:: RCV002014263.6

Allele description [Variation Report for NM_002734.5(PRKAR1A):c.200A>G (p.Asn67Ser)]

NM_002734.5(PRKAR1A):c.200A>G (p.Asn67Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q24.2

Genomic location:

Preferred name:

NM_002734.5(PRKAR1A):c.200A>G (p.Asn67Ser)

HGVS:

NC_000017.11:g.68522778A>G
NG_007093.3:g.114156A>G
NM_001276289.2:c.200A>G
NM_001276290.1:c.200A>G
NM_001278433.2:c.200A>G
NM_001369389.1:c.200A>G
NM_001369390.1:c.200A>G
NM_002734.5:c.200A>GMANE SELECT
NM_212471.3:c.200A>G
NM_212472.2:c.200A>G
NP_001263218.1:p.Asn67Ser
NP_001263219.1:p.Asn67Ser
NP_001265362.1:p.Asn67Ser
NP_001356318.1:p.Asn67Ser
NP_001356319.1:p.Asn67Ser
NP_002725.1:p.Asn67Ser
NP_997636.1:p.Asn67Ser
NP_997637.1:p.Asn67Ser
LRG_514t2:c.200A>G
LRG_514:g.114156A>G
LRG_514p2:p.Asn67Ser
NC_000017.10:g.66518919A>G
NM_002734.3:c.200A>G

Protein change:

N67S

Links:

dbSNP: rs2143272320

NCBI 1000 Genomes Browser:

rs2143272320

Molecular consequence:

NM_001276289.2:c.200A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276290.1:c.200A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001278433.2:c.200A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369389.1:c.200A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369390.1:c.200A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002734.5:c.200A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_212471.3:c.200A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_212472.2:c.200A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002301152	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 17, 2021)	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

SCV002301152

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 17, 2021)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002301152.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PRKAR1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 67 of the PRKAR1A protein (p.Asn67Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine.

#	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

ClinVar

Relating variation to medicine