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NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) AND Autosomal recessive nonsyndromic hearing loss 18B

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 27, 2015
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:
RCV000477901.2

Allele description [Variation Report for NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser)]

NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser)
HGVS:
  • NC_000011.10:g.17553376G>A
  • NG_033191.2:g.11004G>A
  • NM_001277269.2:c.433G>A
  • NM_001292063.2:c.397G>AMANE SELECT
  • NP_001264198.1:p.Gly145Ser
  • NP_001264198.1:p.Gly145Ser
  • NP_001278992.1:p.Gly133Ser
  • NC_000011.9:g.17574923G>A
  • NM_001277269.1:c.433G>A
Protein change:
G133S
Links:
dbSNP: rs186893662
NCBI 1000 Genomes Browser:
rs186893662
Molecular consequence:
  • NM_001277269.2:c.433G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.2:c.397G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 18B
Synonyms:
Deafness, autosomal recessive 18b
Identifiers:
MONDO: MONDO:0013985; MedGen: C3554163; Orphanet: 90636; OMIM: 614945

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536773Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq
no assertion criteria provided
Uncertain significance
(May 27, 2015) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536773.1

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

Last Updated: Aug 4, 2024