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NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs) AND Renal tubular acidosis with progressive nerve deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 19, 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:
RCV001251495.3

Allele description [Variation Report for NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs)]

NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs)

Gene:
ATP6V1B1:ATPase H+ transporting V1 subunit B1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p13.3
Genomic location:
Preferred name:
NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs)
HGVS:
  • NC_000002.12:g.70958054del
  • NG_008016.1:g.27187del
  • NM_001692.4:c.183delMANE SELECT
  • NP_001683.2:p.Gln61fs
  • LRG_1176t1:c.183del
  • LRG_1176:g.27187del
  • LRG_1176p1:p.Gln61fs
  • NC_000002.11:g.71185184del
  • NC_000002.11:g.71185184del
  • NM_001692.3:c.183del
Protein change:
Q61fs
Links:
dbSNP: rs1680484812
NCBI 1000 Genomes Browser:
rs1680484812
Molecular consequence:
  • NM_001692.4:c.183del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Renal tubular acidosis with progressive nerve deafness
Synonyms:
RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS; RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PROGRESSIVE NERVE DEAFNESS; RTA WITH PROGRESSIVE NERVE DEAFNESS; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009968; MedGen: C0403554; OMIM: 267300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001427198Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 19, 2019) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, SCV001427198.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

A homozygous frameshift deletion variant, NM_001692.3(ATP6V1B1):c.183del, has been identified in exon 3 of 14 of the ATP6V1B1 gene. This deletion is predicted to create a frameshift starting at amino acid position 61, introducing a stop codon 103 residues downstream (NP_001683.2(ATP6V1B1):p.(Gln61Hisfs*103)). This variant is predicted to result in loss of protein function either through truncation (including the V-ATPase_V1_B domain) or nonsense-mediated decay, which is a reported mechanism of pathogenicity for this gene. The variant is absent in population databases (gnomAD). This variant has not been previously reported in clinical cases, however, homozygous and compound heterozygous variants predicted to result in nonsense-mediated decay have previously been shown to cause Renal tubular acidosis with deafness (ClinVar, HGMD, Karet, F. et al. (1999)). Based on the information available at the time of curation, this variant has been classified as PATHOGENIC.

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

Last Updated: Sep 29, 2024