NM_012463.4(ATP6V0A2):c.968G>A (p.Cys323Tyr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 28, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000431133.1

Allele description [Variation Report for NM_012463.4(ATP6V0A2):c.968G>A (p.Cys323Tyr)]

NM_012463.4(ATP6V0A2):c.968G>A (p.Cys323Tyr)

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.968G>A (p.Cys323Tyr)
HGVS:
  • NC_000012.12:g.123737201G>A
  • NG_012743.1:g.29884G>A
  • NM_012463.4:c.968G>AMANE SELECT
  • NP_036595.2:p.Cys323Tyr
  • NC_000012.11:g.124221748G>A
  • NM_012463.3:c.968G>A
Protein change:
C323Y
Links:
dbSNP: rs775855556
NCBI 1000 Genomes Browser:
rs775855556
Molecular consequence:
  • NM_012463.4:c.968G>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
SCV000528993GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 28, 2016)
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, SCV000528993.4

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

Description

A variant of uncertain significance has been identified in the ATP6V0A2 gene. The C323Y 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 C323Y 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. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, 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: Feb 27, 2021

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