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NM_000702.4(ATP1A2):c.1816G>A (p.Ala606Thr) AND ATP1A2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 28, 2023
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:
RCV003419903.5

Allele description [Variation Report for NM_000702.4(ATP1A2):c.1816G>A (p.Ala606Thr)]

NM_000702.4(ATP1A2):c.1816G>A (p.Ala606Thr)

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.1816G>A (p.Ala606Thr)
HGVS:
  • NC_000001.11:g.160130586G>A
  • NG_008014.1:g.19829G>A
  • NM_000702.4:c.1816G>AMANE SELECT
  • NP_000693.1:p.Ala606Thr
  • LRG_6:g.19829G>A
  • NC_000001.10:g.160100376G>A
  • NM_000702.3:c.1816G>A
Protein change:
A606T
Links:
dbSNP: rs1414742926
NCBI 1000 Genomes Browser:
rs1414742926
Molecular consequence:
  • NM_000702.4:c.1816G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ATP1A2-related disorder
Synonyms:
ATP1A2-related condition; ATP1A2-RELATED DISORDERS
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004109633PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 28, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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 PreventionGenetics, part of Exact Sciences, SCV004109633.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The ATP1A2 c.1816G>A variant is predicted to result in the amino acid substitution p.Ala606Thr. This variant was reported in the heterozygous state in numerous individuals with hemiplegic migraine and was found to co-segregate in at least four unrelated families (Riant et al. 2005. PubMed ID: 16088919; Jen et al. 2007. PubMed ID: 17435187; Podestà et al. 2011. PubMed ID: 21908445; Carreño et al. 2013. PubMed ID: 24498617; Hiekkala et al. 2018. PubMed ID: 29486580). Functional studies showed that this variant alters the sodium–potassium pump function (Tavraz et al. 2008. PubMed ID: 18728015). This variant is reported in 0.0046% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-160100376-G-A). This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024