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NM_001692.4(ATP6V1B1):c.190del (p.Glu64fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 18, 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:
RCV002051300.4

Allele description [Variation Report for NM_001692.4(ATP6V1B1):c.190del (p.Glu64fs)]

NM_001692.4(ATP6V1B1):c.190del (p.Glu64fs)

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.190del (p.Glu64fs)
HGVS:
  • NC_000002.12:g.70958061del
  • NG_008016.1:g.27194del
  • NM_001692.4:c.190delMANE SELECT
  • NP_001683.2:p.Glu64fs
  • LRG_1176t1:c.190del
  • LRG_1176:g.27194del
  • LRG_1176p1:p.Glu64fs
  • NC_000002.11:g.71185190del
  • NC_000002.11:g.71185191del
Protein change:
E64fs
Links:
dbSNP: rs2104825065
NCBI 1000 Genomes Browser:
rs2104825065
Molecular consequence:
  • NM_001692.4:c.190del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002108510Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 18, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV002108510.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu64Argfs*100) 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).

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

Last Updated: Sep 29, 2024