NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 9, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000599054.4

Allele description [Variation Report for NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)]

NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)

Gene:
ATP6V0A2:ATPase H+ transporting V0 subunit a2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)
HGVS:
  • NC_000012.12:g.123712643dup
  • NG_012743.1:g.5326dup
  • NM_012463.4:c.78dupMANE SELECT
  • NP_036595.2:p.Ser27fs
  • NC_000012.11:g.124197190dup
  • NM_012463.3:c.78dupC
Protein change:
S27fs
Links:
dbSNP: rs745590426
NCBI 1000 Genomes Browser:
rs745590426
Molecular consequence:
  • NM_012463.4:c.78dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000339824Eurofins NTD, LLCcriteria provided, single submitter
Pathogenic
(Feb 23, 2016)
germlineclinical testing

Citation Link,

SCV000709959GeneDxcriteria provided, single submitter
Pathogenic
(Jan 9, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Eurofins NTD, LLC, SCV000339824.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV000709959.1

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

Description

The c.78dupC variant in the ATP6V0A2 gene has been reported previously using alternate nomenclature c.78_79insC in an individual with cutis laxa and inguinal hernia who also harbored a ATP6V0A2 missense variant, although parental studies were not performed to determine the phase of these two variants (Hucthagowder et al., 2009). The c.78dupC variant causes a frameshift starting with codon Serine 27, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 28 of the new reading frame, denoted p.Ser27GlnfsX28. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.78dupC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.78dupC as a pathogenic variant.

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

Last Updated: Jan 8, 2022

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