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NM_212472.2(PRKAR1A):c.709-7_709-2del

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 27, 2020
Accession:
VCV000012675.3
Variation ID:
12675
Description:
6bp microsatellite
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NM_212472.2(PRKAR1A):c.709-7_709-2del

Allele ID
27714
Variant type
Microsatellite
Variant length
6 bp
Cytogenetic location
17q24.2
Genomic location
17: 68527824-68527829 (GRCh38) GRCh38 UCSC
17: 66523965-66523970 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.66523968_66523973TTTTTA[1]
NC_000017.11:g.68527827_68527832TTTTTA[1]
NM_001278433.1:c.709-7_709-2del splice acceptor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:68527823:TTATTTTTATTTTTA:TTATTTTTA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA256538
OMIM: 188830.0014
dbSNP: rs281864801
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 27, 2020 RCV001387938.1
Pathogenic 2 no assertion criteria provided Sep 20, 2012 RCV000013511.25
Pathogenic 1 no assertion criteria provided May 1, 2006 RCV000013512.26
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PRKAR1A - - GRCh38
GRCh37
408 596

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 27, 2020)
criteria provided, single submitter
Method: clinical testing
Carney complex, type 1
Allele origin: germline
Invitae
Accession: SCV001588698.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change falls in intron 7 of the PRKAR1A gene. It does not directly change the encoded amino acid sequence of the PRKAR1A protein. … (more)
Pathogenic
(May 01, 2006)
no assertion criteria provided
Method: literature only
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
Allele origin: germline
OMIM
Accession: SCV000033758.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)
Pathogenic
(May 01, 2006)
no assertion criteria provided
Method: literature only
CARNEY COMPLEX
Allele origin: germline
OMIM
Accession: SCV000033759.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)
pathologic
(Sep 20, 2012)
no assertion criteria provided
Method: curation
Carney Complex
Allele origin: not provided
GeneReviews
Accession: SCV000058242.2
Submitted: (Mar 26, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series. Navarro Moreno C Hormone research in paediatrics 2018 PMID: 29909407
Carney Complex Stratakis CA - 2018 PMID: 20301463
A rare case of familial Cushing's syndrome with a common presentation of weight gain due to a mutation of the PRKAR1A gene causing isolated primary pigmented nodular adrenocortical disease. Poukoulidou T Journal of pediatric endocrinology & metabolism : JPEM 2014 PMID: 24859511
Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association. Gaujoux S The Journal of clinical endocrinology and metabolism 2011 PMID: 21900385
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. Groussin L The Journal of clinical endocrinology and metabolism 2006 PMID: 16464939
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. Groussin L The Journal of clinical endocrinology and metabolism 2002 PMID: 12213893

Text-mined citations for rs281864801...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 13, 2021