NM_000944.5(PPP3CA):c.1251_1252del (p.Ser417fs) AND Epileptic encephalopathy, infantile or early childhood, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 28, 2022
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:: RCV002280296.3

Allele description [Variation Report for NM_000944.5(PPP3CA):c.1251_1252del (p.Ser417fs)]

NM_000944.5(PPP3CA):c.1251_1252del (p.Ser417fs)

Gene:

PPP3CA:protein phosphatase 3 catalytic subunit alpha [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q24

Genomic location:

Preferred name:

NM_000944.5(PPP3CA):c.1251_1252del (p.Ser417fs)

HGVS:

NC_000004.12:g.101032355_101032356del
NG_077596.1:g.484_485del
NM_000944.5:c.1251_1252delMANE SELECT
NM_001130691.2:c.1251_1252del
NM_001130692.2:c.1125_1126del
NP_000935.1:p.Ser417fs
NP_001124163.1:p.Ser417fs
NP_001124164.1:p.Ser375fs
NC_000004.11:g.101953512_101953513del

Protein change:

S375fs

Molecular consequence:

NM_000944.5:c.1251_1252del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130691.2:c.1251_1252del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130692.2:c.1125_1126del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002568319	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 28, 2022)	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

SCV002568319

Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 28, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV002568319.1

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

Description

PVS1, PS2, PM2

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

Last Updated: Apr 30, 2023

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