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NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs) AND Epileptic encephalopathy, infantile or early childhood, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 26, 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:
RCV000625968.2

Allele description [Variation Report for NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs)]

NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs)

Gene:
PPP3CA:protein phosphatase 3 catalytic subunit alpha [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4q24
Genomic location:
Preferred name:
NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs)
HGVS:
  • NC_000004.12:g.101032296_101032299dup
  • NM_000944.5:c.1308_1311dupMANE SELECT
  • NM_001130691.2:c.1308_1311dup
  • NM_001130692.2:c.1182_1185dup
  • NP_000935.1:p.Ser438fs
  • NP_001124163.1:p.Ser438fs
  • NP_001124164.1:p.Ser396fs
  • NC_000004.11:g.101953453_101953456dup
  • NM_001130692.1:c.1182_1185dupACTT
  • p.S396fs
Protein change:
S396fs
Links:
dbSNP: rs1553920379
NCBI 1000 Genomes Browser:
rs1553920379
Molecular consequence:
  • NM_000944.5:c.1308_1311dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130691.2:c.1308_1311dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130692.2:c.1182_1185dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Epileptic encephalopathy, infantile or early childhood, 1
Synonyms:
Developmental and epileptic encephalopathy 91
Identifiers:
MONDO: MONDO:0020630; MedGen: C4540199; OMIM: 617711

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000746566Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 26, 2017) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Koreande novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000746566.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Korean1not providednot providedclinical testing
(GTR000553916.1)		 PubMed (1)

Description

This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID: 18414213) and was found de novo in a 10-year-old male with epilepsy, developmental regression, global developmental delay, autism spectrum disorder, poor coordination, hyperreflexia with clonus, hypotonia, high pain threshold, high resting body temperature, and GI constipation and reflux.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided
(GTR000553916.1)		1not providednot providednot provided

Last Updated: Aug 15, 2022