NM_012463.4(ATP6V0A2):c.588C>G (p.Cys196Trp) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 11, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000519336.1

Allele description [Variation Report for NM_012463.4(ATP6V0A2):c.588C>G (p.Cys196Trp)]

NM_012463.4(ATP6V0A2):c.588C>G (p.Cys196Trp)

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.588C>G (p.Cys196Trp)
HGVS:
  • NC_000012.12:g.123727849C>G
  • NG_012743.1:g.20532C>G
  • NM_012463.4:c.588C>GMANE SELECT
  • NP_036595.2:p.Cys196Trp
  • NC_000012.11:g.124212396C>G
  • NM_012463.3:c.588C>G
Protein change:
C196W
Links:
dbSNP: rs940128206
NCBI 1000 Genomes Browser:
rs940128206
Molecular consequence:
  • NM_012463.4:c.588C>G - 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
SCV000620690GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 11, 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, SCV000620690.2

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

Description

A variant of uncertain significance has been identified in the ATP6V0A2 gene. The C196W variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The C196W variant is not observed in large population cohorts (Lek et al., 2016). The C196W 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. 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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