NM_014225.6(PPP2R1A):c.548G>C (p.Arg183Pro) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 28, 2017
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:: RCV001265840.2

Allele description [Variation Report for NM_014225.6(PPP2R1A):c.548G>C (p.Arg183Pro)]

NM_014225.6(PPP2R1A):c.548G>C (p.Arg183Pro)

Gene:

PPP2R1A:protein phosphatase 2 scaffold subunit Aalpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.41

Genomic location:

Preferred name:

NM_014225.6(PPP2R1A):c.548G>C (p.Arg183Pro)

HGVS:

NC_000019.10:g.52212730G>C
NG_047068.1:g.27929G>C
NM_001363656.2:c.11G>C
NM_014225.6:c.548G>CMANE SELECT
NP_001350585.1:p.Arg4Pro
NP_055040.2:p.Arg183Pro
NC_000019.9:g.52715983G>C
NM_014225.5:c.548G>C
NR_033500.2:n.492G>C

Protein change:

R183P

Links:

dbSNP: rs1057519947

NCBI 1000 Genomes Browser:

rs1057519947

Molecular consequence:

NM_001363656.2:c.11G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014225.6:c.548G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_033500.2:n.492G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001444012	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Nov 28, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001444012

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Nov 28, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Large-scale discovery of novel genetic causes of developmental disorders.

Deciphering Developmental Disorders Study..

Nature. 2015 Mar 12;519(7542):223-8. doi: 10.1038/nature14135. Epub 2014 Dec 24.

PubMed [citation]

PMID:: 25533962
PMCID:: PMC5955210

Details of each submission

From Ambry Genetics, SCV001444012.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 7, 2023

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