NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His) AND Migraine, familial basilar

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 13, 2005
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:: RCV000013789.18

Allele description [Variation Report for NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)]

NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)

Gene:

ATP1A2:ATPase Na+/K+ transporting subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.2

Genomic location:

Preferred name:

NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)

HGVS:

NC_000001.11:g.160130283G>A
NG_008014.1:g.19526G>A
NM_000702.4:c.1643G>AMANE SELECT
NP_000693.1:p.Arg548His
LRG_6:g.19526G>A
NC_000001.10:g.160100073G>A
NM_000702.3:c.1643G>A

Protein change:

R548H; ARG548HIS

Links:

OMIM: 182340.0010; dbSNP: rs121918616

NCBI 1000 Genomes Browser:

rs121918616

Molecular consequence:

NM_000702.4:c.1643G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Migraine, familial basilar
Identifiers:: MedGen: C1865323

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034036	OMIM	no assertion criteria provided	Pathogenic (Dec 13, 2005)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034036

OMIM

no assertion criteria provided

Pathogenic
(Dec 13, 2005)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Familial basilar migraine associated with a new mutation in the ATP1A2 gene.

Ambrosini A, D'Onofrio M, Grieco GS, Di Mambro A, Montagna G, Fortini D, Nicoletti F, Nappi G, Sances G, Schoenen J, Buzzi MG, Santorelli FM, Pierelli F.

Neurology. 2005 Dec 13;65(11):1826-8.

PubMed [citation]

PMID:: 16344534

Details of each submission

From OMIM, SCV000034036.2

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

Description

In a father and son (proband) with basilar migraine (see 602481), Ambrosini et al. (2005) identified a heterozygous 1643G-A transition in exon 12 of the ATP1A2 gene, resulting in an arg548-to-his (R548H) substitution in a highly conserved region of the protein. Residue 548 occurs in the major alpha-2 subunit cytoplasmic loop, which plays a key role in pump function. The mutation was not identified in 400 control chromosomes. The R548H mutation was also identified in the proband's paternal uncle who had basilar migraines in his youth, but at the time of the report had migraine without aura, and in the proband's first cousin, who had migraine without aura. Ambrosini et al. (2005) concluded that basilar migraine is allelic to FHM2.

#	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

Last Updated: May 16, 2025

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