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NM_152296.5(ATP1A3):c.385G>A (p.Val129Met) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 2, 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:
RCV002282097.2

Allele description [Variation Report for NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)]

NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)

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.385G>A (p.Val129Met)
HGVS:
  • NC_000019.10:g.41986202C>T
  • NG_008015.1:g.13029G>A
  • NM_001256213.2:c.418G>A
  • NM_001256214.2:c.424G>A
  • NM_152296.5:c.385G>AMANE SELECT
  • NP_001243142.1:p.Val140Met
  • NP_001243143.1:p.Val142Met
  • NP_689509.1:p.Val129Met
  • LRG_1186t1:c.385G>A
  • LRG_1186:g.13029G>A
  • LRG_1186p1:p.Val129Met
  • NC_000019.9:g.42490354C>T
  • NM_001256214.1:c.424G>A
  • NM_152296.4:c.385G>A
Protein change:
V129M
Links:
dbSNP: rs1555865401
NCBI 1000 Genomes Browser:
rs1555865401
Molecular consequence:
  • NM_001256213.2:c.418G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256214.2:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152296.5:c.385G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002571546GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely pathogenic
(Sep 2, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002571546.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported previously as a de novo variant in a patient with neonatal hypotonia, pervasive developmental disorder, episodes of stiffness when sleeping, severe-injurious behaviors, and childhood-onset schizophrenia (Smedemark-Margulies et al., 2016); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27626066)

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

Last Updated: Oct 8, 2024