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NM_194248.3(OTOF):c.5104-1G>T AND Autosomal recessive nonsyndromic hearing loss 9

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 1, 2021
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:
RCV001822921.1

Allele description [Variation Report for NM_194248.3(OTOF):c.5104-1G>T]

NM_194248.3(OTOF):c.5104-1G>T

Genes:
LOC112840921:BRD4-independent group 4 enhancer GRCh37_chr2:26685720-26686919 [Gene]
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.5104-1G>T
HGVS:
  • NC_000002.12:g.26463572C>A
  • NG_009937.1:g.100127G>T
  • NG_060956.1:g.52C>A
  • NG_060956.2:g.821C>A
  • NM_001287489.2:c.5104-1G>T
  • NM_004802.4:c.2803-1G>T
  • NM_194248.3:c.5104-1G>TMANE SELECT
  • NM_194322.3:c.3034-1G>T
  • NM_194323.3:c.2803-1G>T
  • NC_000002.11:g.26686440C>A
  • NM_194248.2:c.5104-1G>T
Links:
dbSNP: rs2148023761
NCBI 1000 Genomes Browser:
rs2148023761
Molecular consequence:
  • NM_001287489.2:c.5104-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004802.4:c.2803-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_194248.3:c.5104-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_194322.3:c.3034-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_194323.3:c.2803-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 9
Synonyms:
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9; Deafness, autosomal recessive 9; AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010986; MedGen: C1832828; Orphanet: 90636; OMIM: 601071

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001762470WangQJ Lab, Chinese People's Liberation Army General Hospital
no assertion criteria provided
Likely pathogenic
(Jul 1, 2021) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From WangQJ Lab, Chinese People's Liberation Army General Hospital, SCV001762470.1

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

Last Updated: Dec 24, 2023