NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter) AND Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss

Clinical significance:Pathogenic (Last evaluated: Nov 1, 2002)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000005465.4

Allele description [Variation Report for NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter)]

NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter)

Gene:
ATP6V0A4:ATPase H+ transporting V0 subunit a4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter)
HGVS:
  • NC_000007.14:g.138739606A>T
  • NG_008145.1:g.63591T>A
  • NM_020632.3:c.1506T>A
  • NM_130840.3:c.1506T>A
  • NM_130841.2:c.1506T>A
  • NP_065683.2:p.Tyr502Ter
  • NP_570855.2:p.Tyr502Ter
  • NP_570856.2:p.Tyr502Ter
  • NC_000007.13:g.138424351A>T
Protein change:
Y502*; TYR502TER
Links:
OMIM: 605239.0009; dbSNP: rs121908369
NCBI 1000 Genomes Browser:
rs121908369
Molecular consequence:
  • NM_020632.3:c.1506T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130840.3:c.1506T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130841.2:c.1506T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss
Identifiers:
MedGen: C1864499

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000025647OMIMno assertion criteria providedPathogenic
(Nov 1, 2002)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, et al.

J Med Genet. 2002 Nov;39(11):796-803.

PubMed [citation]
PMID:
12414817
PMCID:
PMC1735017

Details of each submission

From OMIM, SCV000025647.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 34-year-old Spanish patient with distal renal tubular acidosis (RTADR; 602722), Stover et al. (2002) identified a 1506T-A transversion in the ATP6V0A4 gene, resulting in a tyr502-to-stop (Y502X) mutation. This mutation was found to be frequent in patients from northern Spain, suggesting founder effect. The patient was found to have sensorineural hearing loss for the first time at the age of 33 years. He had had previous audiograms within normal limits.

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

Last Updated: Nov 2, 2019

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