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NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 21, 2017
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:
RCV000603232.4

Allele description [Variation Report for NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln)]

NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln)

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.992G>A (p.Arg331Gln)
HGVS:
  • NC_000002.12:g.70963244G>A
  • NG_008016.1:g.32377G>A
  • NM_001692.4:c.992G>AMANE SELECT
  • NP_001683.2:p.Arg331Gln
  • LRG_1176t1:c.992G>A
  • LRG_1176:g.32377G>A
  • LRG_1176p1:p.Arg331Gln
  • NC_000002.11:g.71190374G>A
  • NM_001692.3:c.992G>A
Protein change:
R331Q
Links:
dbSNP: rs148429410
NCBI 1000 Genomes Browser:
rs148429410
Molecular consequence:
  • NM_001692.4:c.992G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000710980Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Dec 21, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided31not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000710980.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

The p.Arg331Gln variant in ATP6V1B1 has not been previously reported in individu als with hearing loss, but has been identified in 11/30780 South Asian chromosom es including 1 homozygote by the Genome Aggregation Database (gnomAD, http://gno mad.broadinstitute.org; dbSNP rs148429410). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathog enic role. Computational prediction tools and conservation analysis suggest that the p.Arg331Gln variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significa nce of the p.Arg331Gln variant is uncertain. ACMG/AMP Criteria applied: PP3.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided1not provided

Last Updated: May 7, 2024