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NM_000702.4(ATP1A2):c.3004C>G (p.Arg1002Gly) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 27, 2017
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:
RCV002435697.2

Allele description [Variation Report for NM_000702.4(ATP1A2):c.3004C>G (p.Arg1002Gly)]

NM_000702.4(ATP1A2):c.3004C>G (p.Arg1002Gly)

Gene:
ATP1A2:ATPase Na+/K+ transporting subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.2
Genomic location:
Preferred name:
NM_000702.4(ATP1A2):c.3004C>G (p.Arg1002Gly)
HGVS:
  • NC_000001.11:g.160139954C>G
  • NG_008014.1:g.29197C>G
  • NM_000702.4:c.3004C>GMANE SELECT
  • NP_000693.1:p.Arg1002Gly
  • NP_000693.1:p.Arg1002Gly
  • NP_000693.1:p.Arg1002Gly
  • LRG_6t1:c.3004C>G
  • LRG_6:g.29197C>G
  • LRG_6p1:p.Arg1002Gly
  • NC_000001.10:g.160109744C>G
  • NM_000702.2:c.3004C>G
  • NM_000702.3:c.3004C>G
Protein change:
R1002G
Molecular consequence:
  • NM_000702.4:c.3004C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002750794Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 27, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002750794.2

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

Description

The p.R1002G variant (also known as c.3004C>G), located in coding exon 22 of the ATP1A2 gene, results from a C to G substitution at nucleotide position 3004. The arginine at codon 1002 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek M et al. Nature. 2016 Aug 18;536(7616):285-91; DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. Firth H.V. et al. 2009. Am.J.Hum.Genet. 84, 524-533 (DOI: dx.doi.org/10/1016/j.ajhg.2009.03.010)). In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024