NM_001692.4(ATP6V1B1):c.535C>T (p.Arg179Cys) AND Renal tubular acidosis with progressive nerve deafness

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 25, 2020
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:: RCV001279887.1

Allele description [Variation Report for NM_001692.4(ATP6V1B1):c.535C>T (p.Arg179Cys)]

NM_001692.4(ATP6V1B1):c.535C>T (p.Arg179Cys)

Gene:

ATP6V1B1:ATPase H+ transporting V1 subunit B1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.3

Genomic location:

Preferred name:

NM_001692.4(ATP6V1B1):c.535C>T (p.Arg179Cys)

HGVS:

NC_000002.12:g.70960028C>T
NG_008016.1:g.29161C>T
NM_001692.4:c.535C>TMANE SELECT
NP_001683.2:p.Arg179Cys
LRG_1176t1:c.535C>T
LRG_1176:g.29161C>T
LRG_1176p1:p.Arg179Cys
NC_000002.11:g.71187158C>T

Protein change:

R179C

Links:

dbSNP: rs1318500139

NCBI 1000 Genomes Browser:

rs1318500139

Molecular consequence:

NM_001692.4:c.535C>T - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001467023	Natera, Inc.	no assertion criteria provided	Uncertain significance (Aug 25, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001467023

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Aug 25, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV001467023.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

ClinVar

Relating variation to medicine