NM_012463.4(ATP6V0A2):c.779G>A (p.Arg260Lys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 26, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000523731.1

Allele description [Variation Report for NM_012463.4(ATP6V0A2):c.779G>A (p.Arg260Lys)]

NM_012463.4(ATP6V0A2):c.779G>A (p.Arg260Lys)

Gene:
ATP6V0A2:ATPase H+ transporting V0 subunit a2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_012463.4(ATP6V0A2):c.779G>A (p.Arg260Lys)
HGVS:
  • NC_000012.12:g.123735578G>A
  • NG_012743.1:g.28261G>A
  • NM_012463.4:c.779G>AMANE SELECT
  • NP_036595.2:p.Arg260Lys
  • NC_000012.11:g.124220125G>A
  • NM_012463.3:c.779G>A
Protein change:
R260K
Links:
dbSNP: rs199578524
NCBI 1000 Genomes Browser:
rs199578524
Molecular consequence:
  • NM_012463.4:c.779G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000621786GeneDxcriteria provided, single submitter
Uncertain significance
(Oct 26, 2017)
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, SCV000621786.2

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

Description

A variant of uncertain significance has been identified in the ATP6V0A2 gene. The R260K variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Nevertheless, the R260K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Moreover, this substitution occurs at a position that is not conserved across species. Finally, in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, additional evidence is needed to clarify the pathogenicity of this variant.

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

Last Updated: Feb 27, 2021

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