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NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu) AND Autosomal recessive distal renal tubular acidosis

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 28, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000987977.1

Allele description [Variation Report for NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu)]

NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu)

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.2451C>A (p.Phe817Leu)
HGVS:
  • NC_000007.14:g.138706696G>T
  • NG_008145.1:g.96501C>A
  • NM_020632.3:c.2451C>AMANE SELECT
  • NM_130840.3:c.2451C>A
  • NM_130841.3:c.2451C>A
  • NP_065683.2:p.Phe817Leu
  • NP_570855.2:p.Phe817Leu
  • NP_570856.2:p.Phe817Leu
  • LRG_1175t1:c.2451C>A
  • LRG_1175:g.96501C>A
  • LRG_1175p1:p.Phe817Leu
  • NC_000007.13:g.138391441G>T
Protein change:
F817L
Links:
dbSNP: rs934266733
NCBI 1000 Genomes Browser:
rs934266733
Molecular consequence:
  • NM_020632.3:c.2451C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130840.3:c.2451C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130841.3:c.2451C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive distal renal tubular acidosis
Synonyms:
RTA, distal, autosomal recessive; Renal tubular acidosis, autosomal recessive with preserved hearing
Identifiers:
MONDO: MONDO:0018440; MedGen: C1864498

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001137512Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001137512.1

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

Last Updated: Jul 29, 2023