NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) AND Deafness, autosomal recessive 18b

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jul 22, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000477813.4

Allele description [Variation Report for NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)]

NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)
HGVS:
  • NC_000011.10:g.17574890C>T
  • NG_033191.2:g.32518C>T
  • NM_001277269.2:c.2500C>T
  • NM_001292063.2:c.2464C>TMANE SELECT
  • NP_001264198.1:p.Gln834Ter
  • NP_001264198.1:p.Gln834Ter
  • NP_001278992.1:p.Gln822Ter
  • NC_000011.9:g.17596437C>T
  • NM_001277269.1:c.2500C>T
  • NM_001277269.2:c.2500C>T
  • p.Gln834X
Protein change:
Q822*
Links:
dbSNP: rs554847663
NCBI 1000 Genomes Browser:
rs554847663
Molecular consequence:
  • NM_001277269.2:c.2500C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001292063.2:c.2464C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Deafness, autosomal recessive 18b (DFNB18B)
Identifiers:
MONDO: MONDO:0013985; MedGen: C3554163; Orphanet: 90636; OMIM: 614945

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000536895Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeqno assertion criteria providedLikely pathogenic
(Jul 19, 2016)
germlineresearch

SCV000893872Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Likely pathogenic
(Oct 31, 2018)
unknownclinical testing

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

SCV001870382HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGScriteria provided, single submitter
Pathogenic
(Jul 22, 2021)
maternalresearch

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

SCV002020598PerkinElmer Genomicsno assertion criteria providedPathogenic
(Nov 30, 2019)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedmaternalyes1not providednot provided1not providedresearch

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 Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536895.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Fulgent Genetics,Fulgent Genetics, SCV000893872.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGS, SCV001870382.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

ACMG codes:PVS1, PM2, PP5

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not providednot provided1not providednot providednot provided

From PerkinElmer Genomics, SCV002020598.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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