NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 9, 2021
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:: RCV001879825.4

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002229512	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Apr 9, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9916796, 18368028, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002229512

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Apr 9, 2021)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Citations

PubMed

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton SA, Wu DK, Skvorak AB, Morton CC, Cunningham MJ, Jha V, et al.

Nat Genet. 1999 Jan;21(1):84-90.

PubMed [citation]

PMID:: 9916796

The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction.

Fuster DG, Zhang J, Xie XS, Moe OW.

Kidney Int. 2008 May;73(10):1151-8. doi: 10.1038/ki.2008.96. Epub 2008 Mar 26.

PubMed [citation]

PMID:: 18368028

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002229512.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ATP6V1B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 975088). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln61Hisfs*103) in the ATP6V1B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP6V1B1 are known to be pathogenic (PMID: 9916796, 18368028).

#	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: Sep 29, 2024

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