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NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) AND Auditory neuropathy spectrum disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 15, 2020
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:
RCV003984813.2

Allele description [Variation Report for NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu)]

NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu)

Gene:
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu)
HGVS:
  • NC_000002.12:g.26484485A>T
  • NG_009937.1:g.79214T>A
  • NM_001287489.2:c.1194T>A
  • NM_194248.3:c.1194T>AMANE SELECT
  • NP_001274418.1:p.Asp398Glu
  • NP_919224.1:p.Asp398Glu
  • NC_000002.11:g.26707353A>T
  • NM_194248.1:c.1194T>A
  • NM_194248.2:c.1194T>A
  • c.1194T>A
Protein change:
D398E
Links:
dbSNP: rs181805996
NCBI 1000 Genomes Browser:
rs181805996
Molecular consequence:
  • NM_001287489.2:c.1194T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194248.3:c.1194T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Auditory neuropathy spectrum disorder
Identifiers:
MedGen: C2732267

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004801101Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University
no assertion criteria provided
Pathogenic
(Aug 15, 2020) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asianinheritedyesnot providednot providednot providednot providednoclinical testing

Details of each submission

From Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, SCV004801101.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asiannot providednot providednoclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providedBloodvalidationnot providednot providednot providednot provided

Last Updated: Jun 23, 2024