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NM_152296.5(ATP1A3):c.2328G>C (p.Glu776Asp) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 13, 2015
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:
RCV000489928.1

Allele description [Variation Report for NM_152296.5(ATP1A3):c.2328G>C (p.Glu776Asp)]

NM_152296.5(ATP1A3):c.2328G>C (p.Glu776Asp)

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.2328G>C (p.Glu776Asp)
HGVS:
  • NC_000019.10:g.41970478C>G
  • NG_008015.1:g.28753G>C
  • NM_001256213.2:c.2361G>C
  • NM_001256214.2:c.2367G>C
  • NM_152296.5:c.2328G>CMANE SELECT
  • NP_001243142.1:p.Glu787Asp
  • NP_001243143.1:p.Glu789Asp
  • NP_689509.1:p.Glu776Asp
  • LRG_1186t1:c.2328G>C
  • LRG_1186:g.28753G>C
  • LRG_1186p1:p.Glu776Asp
  • NC_000019.9:g.42474630C>G
  • NM_152296.4:c.2328G>C
Protein change:
E776D
Links:
dbSNP: rs1085307992
NCBI 1000 Genomes Browser:
rs1085307992
Molecular consequence:
  • NM_001256213.2:c.2361G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256214.2:c.2367G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152296.5:c.2328G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000577790GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(May 13, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000577790.4

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

Description

The E776D variant in the ATP1A3 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The E776D variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E776D varian is a conservative amino acid substitution, which occurs at a position within a transmembrane domain that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (N773I, N773S, and F780L) have been reported in the Human Gene Mutation Database in association with ATP1A3-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. The E776D variant, is a strong candidate for a disease-causing variant, . However, the possibility it may be a rare benign variant cannot be excluded

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

Last Updated: Apr 23, 2022