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NM_212472.2(PRKAR1A):c.489T>C (p.Thr163=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000413784.7
Variation ID:
413784
Description:
single nucleotide variant
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NM_212472.2(PRKAR1A):c.489T>C (p.Thr163=)

Allele ID
403066
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q24.2
Genomic location
17: 68524064 (GRCh38) GRCh38 UCSC
17: 66520205 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.66520205T>C
NC_000017.11:g.68524064T>C
NM_001276289.1:c.489T>C NP_001263218.1:p.Thr163= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:68524063:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00026
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00115
The Genome Aggregation Database (gnomAD), exomes 0.00021
1000 Genomes Project 0.00080
Trans-Omics for Precision Medicine (TOPMed) 0.00081
Links
ClinGen: CA8729270
dbSNP: rs143672551
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Feb 1, 2019 RCV000601259.2
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV000456278.6
Likely benign 1 criteria provided, single submitter Jun 21, 2017 RCV000567376.1
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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
412 607

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 06, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000715739.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Feb 01, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001362691.1
Submitted: (Mar 06, 2020)
Evidence details
Comment:
Variant summary: PRKAR1A c.489T>C alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these … (more)
Likely benign
(Jun 21, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000674432.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Carney complex, type 1
Allele origin: germline
Invitae
Accession: SCV000556797.6
Submitted: (Jan 07, 2021)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs143672551...

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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 Jun 14, 2021