NM_152296.5(ATP1A3):c.2686T>C (p.Trp896Arg) AND Developmental and epileptic encephalopathy 99

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 24, 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:: RCV002086731.2

Allele description [Variation Report for NM_152296.5(ATP1A3):c.2686T>C (p.Trp896Arg)]

NM_152296.5(ATP1A3):c.2686T>C (p.Trp896Arg)

Gene:

ATP1A3:ATPase Na+/K+ transporting subunit alpha 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_152296.5(ATP1A3):c.2686T>C (p.Trp896Arg)

HGVS:

NC_000019.10:g.41969437A>G
NG_008015.1:g.29794T>C
NM_001256213.2:c.2719T>C
NM_001256214.2:c.2725T>C
NM_152296.5:c.2686T>CMANE SELECT
NP_001243142.1:p.Trp907Arg
NP_001243143.1:p.Trp909Arg
NP_689509.1:p.Trp896Arg
LRG_1186t1:c.2686T>C
LRG_1186:g.29794T>C
LRG_1186p1:p.Trp896Arg
NC_000019.9:g.42473589A>G

Protein change:

W896R

Links:

dbSNP: rs2145945797

NCBI 1000 Genomes Browser:

rs2145945797

Molecular consequence:

NM_001256213.2:c.2719T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001256214.2:c.2725T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_152296.5:c.2686T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Developmental and epileptic encephalopathy 99
Identifiers:: MONDO: MONDO:0030473; MedGen: C5562018; OMIM: 619606

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002320723	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Likely pathogenic (Feb 24, 2022)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002320723

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Likely pathogenic
(Feb 24, 2022)

de novo

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV002320723.1

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

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

Last Updated: Feb 4, 2024

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