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NM_152296.5(ATP1A3):c.2896G>A (p.Val966Met) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 27, 2016
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:
RCV000436297.1

Allele description [Variation Report for NM_152296.5(ATP1A3):c.2896G>A (p.Val966Met)]

NM_152296.5(ATP1A3):c.2896G>A (p.Val966Met)

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.2896G>A (p.Val966Met)
HGVS:
  • NC_000019.10:g.41967687C>T
  • NG_008015.1:g.31544G>A
  • NM_001256213.2:c.2929G>A
  • NM_001256214.2:c.2935G>A
  • NM_152296.5:c.2896G>AMANE SELECT
  • NP_001243142.1:p.Val977Met
  • NP_001243143.1:p.Val979Met
  • NP_689509.1:p.Val966Met
  • LRG_1186t1:c.2896G>A
  • LRG_1186:g.31544G>A
  • LRG_1186p1:p.Val966Met
  • NC_000019.9:g.42471839C>T
  • NM_152296.4:c.2896G>A
Protein change:
V966M
Links:
dbSNP: rs782665893
NCBI 1000 Genomes Browser:
rs782665893
Molecular consequence:
  • NM_001256213.2:c.2929G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256214.2:c.2935G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152296.5:c.2896G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000529469GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 27, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000529469.3

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

Description

The V966M variant in the ATP1A3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V966M 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 V966M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V966M as a variant of uncertain significance.

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

Last Updated: Sep 29, 2024