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NM_020632.3(ATP6V0A4):c.1312_1315del (p.Asp438fs) AND Distal renal tubular acidosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 22, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001849706.1

Allele description [Variation Report for NM_020632.3(ATP6V0A4):c.1312_1315del (p.Asp438fs)]

NM_020632.3(ATP6V0A4):c.1312_1315del (p.Asp438fs)

Gene:
ATP6V0A4:ATPase H+ transporting V0 subunit a4 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_020632.3(ATP6V0A4):c.1312_1315del (p.Asp438fs)
HGVS:
  • NC_000007.14:g.138747431GTCT[1]
  • NG_008145.1:g.55760GACA[1]
  • NM_020632.3:c.1312_1315delMANE SELECT
  • NM_130840.3:c.1312_1315del
  • NM_130841.3:c.1312_1315del
  • NP_065683.2:p.Asp438fs
  • NP_570855.2:p.Asp438fs
  • NP_570856.2:p.Asp438fs
  • LRG_1175t1:c.1312_1315del
  • LRG_1175:g.55760GACA[1]
  • LRG_1175p1:p.Asp438fs
  • NC_000007.13:g.138432176GTCT[1]
  • NM_020632.2:c.1312_1315del
Protein change:
D438fs
Links:
dbSNP: rs1806006713
NCBI 1000 Genomes Browser:
rs1806006713
Molecular consequence:
  • NM_020632.3:c.1312_1315del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130840.3:c.1312_1315del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130841.3:c.1312_1315del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Distal renal tubular acidosis
Identifiers:
MONDO: MONDO:0015827; MedGen: C1704380; OMIM: PS179800; Human Phenotype Ontology: HP:0008341

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002106689Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
no assertion criteria provided
Pathogenic
(Oct 22, 2019) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.

Jobst-Schwan T, Klämbt V, Tarsio M, Heneghan JF, Majmundar AJ, Shril S, Buerger F, Ottlewski I, Shmukler BE, Topaloglu R, Hashmi S, Hafeez F, Emma F, Greco M, Laube GF, Fathy HM, Pohl M, Gellermann J, Milosevic D, Baum MA, Mane S, Lifton RP, et al.

Kidney Int. 2020 Mar;97(3):567-579. doi: 10.1016/j.kint.2019.09.026. Epub 2019 Oct 22.

PubMed [citation]
PMID:
31959358
PMCID:
PMC7039771

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106689.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023