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NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp) AND Autosomal recessive nonsyndromic hearing loss 9

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001823230.1

Allele description [Variation Report for NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp)]

NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp)

Gene:
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp)
HGVS:
  • NC_000002.12:g.26460994C>T
  • NG_009937.1:g.102705G>A
  • NM_001287489.2:c.5570G>A
  • NM_004802.4:c.3269G>A
  • NM_194248.3:c.5570G>AMANE SELECT
  • NM_194322.3:c.3500G>A
  • NM_194323.3:c.3269G>A
  • NP_001274418.1:p.Gly1857Asp
  • NP_004793.2:p.Gly1090Asp
  • NP_919224.1:p.Gly1857Asp
  • NP_919303.1:p.Gly1167Asp
  • NP_919304.1:p.Gly1090Asp
  • NC_000002.11:g.26683862C>T
  • NM_194248.2:c.5570G>A
Protein change:
G1090D
Links:
dbSNP: rs2148018483
NCBI 1000 Genomes Browser:
rs2148018483
Molecular consequence:
  • NM_001287489.2:c.5570G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004802.4:c.3269G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194248.3:c.5570G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194322.3:c.3500G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194323.3:c.3269G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001763606Deafness Molecular Diagnostic Center, Chinese PLA General Hospital
no assertion criteria provided

(ACMG Guidelines, 2015)		Likely pathogenicmaternalcase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedcase-control

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 Deafness Molecular Diagnostic Center, Chinese PLA General Hospital, SCV001763606.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023