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NM_004320.6(ATP2A1):c.245A>G (p.Glu82Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 25, 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:
RCV000444756.1

Allele description [Variation Report for NM_004320.6(ATP2A1):c.245A>G (p.Glu82Gly)]

NM_004320.6(ATP2A1):c.245A>G (p.Glu82Gly)

Gene:
ATP2A1:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_004320.6(ATP2A1):c.245A>G (p.Glu82Gly)
HGVS:
  • NC_000016.10:g.28880940A>G
  • NG_023327.1:g.7453A>G
  • NM_001286075.2:c.-131A>G
  • NM_004320.6:c.245A>GMANE SELECT
  • NM_173201.5:c.245A>G
  • NP_004311.1:p.Glu82Gly
  • NP_775293.1:p.Glu82Gly
  • NC_000016.9:g.28892261A>G
  • NM_173201.3:c.245A>G
Protein change:
E82G
Links:
dbSNP: rs764640218
NCBI 1000 Genomes Browser:
rs764640218
Molecular consequence:
  • NM_001286075.2:c.-131A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_004320.6:c.245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173201.5:c.245A>G - 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
SCV000527486GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 25, 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, SCV000527486.4

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

Description

A variant of uncertain significance has been identified in the ATP2A1 gene. The E82G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It 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 E82G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Mar 16, 2024