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NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) AND Developmental and epileptic encephalopathy 99

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 29, 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:
RCV004017606.2

Allele description [Variation Report for NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)]

NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)

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.2116G>A (p.Gly706Arg)
HGVS:
  • NC_000019.10:g.41975776C>T
  • NG_008015.1:g.23455G>A
  • NM_001256213.2:c.2149G>A
  • NM_001256214.2:c.2155G>A
  • NM_152296.5:c.2116G>AMANE SELECT
  • NP_001243142.1:p.Gly717Arg
  • NP_001243143.1:p.Gly719Arg
  • NP_689509.1:p.Gly706Arg
  • LRG_1186t1:c.2116G>A
  • LRG_1186:g.23455G>A
  • LRG_1186p1:p.Gly706Arg
  • NC_000019.9:g.42479928C>T
  • NM_001256214.1:c.2155G>A
  • NM_152296.4:c.2116G>A
Protein change:
G706R
Links:
dbSNP: rs782175860
NCBI 1000 Genomes Browser:
rs782175860
Molecular consequence:
  • NM_001256213.2:c.2149G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256214.2:c.2155G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152296.5:c.2116G>A - 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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004847196Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jun 29, 2023)
de novoclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot 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

ATP1A3-Related Neurologic Disorders.

Brashear A, Sweadner KJ, Cook JF, Swoboda KJ, Ozelius L.

2008 Feb 7 [updated 2018 Feb 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301294
See all PubMed Citations (3)

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV004847196.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot provideddiscoverynot providednot providednot providednot provided

Last Updated: Jun 23, 2024