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NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 11, 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:
RCV000413243.5

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000491306GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Jan 11, 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, SCV000491306.4

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24842602, 31785789, 28901192, 33868146, 34356170, 34014491, 27726050, 33177352)

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

Last Updated: Jun 23, 2024