NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro) AND Alternating hemiplegia of childhood 2

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 4, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000030751.25

Allele description

NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro)

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.2431T>C (p.Ser811Pro)

HGVS:

NC_000019.10:g.41970296A>G
NG_008015.1:g.28935T>C
NM_001256213.2:c.2464T>C
NM_001256214.2:c.2470T>C
NM_152296.5:c.2431T>CMANE SELECT
NP_001243142.1:p.Ser822Pro
NP_001243143.1:p.Ser824Pro
NP_689509.1:p.Ser811Pro
NP_689509.1:p.Ser811Pro
LRG_1186t1:c.2431T>C
LRG_1186:g.28935T>C
LRG_1186p1:p.Ser811Pro
NC_000019.9:g.42474448A>G
NM_152296.3:c.2431T>C
NM_152296.4:c.2431T>C
P13637:p.Ser811Pro

Protein change:

S811P; SER811PRO

Links:

UniProtKB: P13637#VAR_068946; OMIM: 182350.0011; dbSNP: rs387907282

NCBI 1000 Genomes Browser:

rs387907282

Molecular consequence:

NM_001256213.2:c.2464T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001256214.2:c.2470T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_152296.5:c.2431T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Alternating hemiplegia of childhood 2 (AHC2)
Synonyms:: ATP1A3-Related Alternating Hemiplegia of Childhood
Identifiers:: MONDO: MONDO:0013900; MedGen: C3553788; Orphanet: 2131; OMIM: 614820

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000053412	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000195715	GeneReviews	no assertion criteria provided	Pathogenic (May 4, 2014)	de novo	literature only	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000053412

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2012)

germline

literature only

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

SCV000195715

GeneReviews

no assertion criteria provided

Pathogenic
(May 4, 2014)

de novo

literature only

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium.; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium.; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium., Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, et al.

Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.

PubMed [citation]

PMID:: 22842232
PMCID:: PMC3442240

Details of each submission

From OMIM, SCV000053412.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 4 unrelated patients with alternating hemiplegia of childhood-2 (AHC2; 614820), Heinzen et al. (2012) identified a de novo heterozygous 2431T-C transition in the ATP1A3 gene, resulting in a ser811-to-pro (S811P) substitution in the sixth transmembrane domain. Transfection of the mutation in HeLa cells showed protein levels similar to wildtype, but ATP1A3 activity was significantly decreased.

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

From GeneReviews, SCV000195715.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	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: Jun 18, 2022

ClinVar

Relating variation to medicine