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NM_144672.4(OTOA):c.1537del (p.Ala513fs) AND Autosomal recessive nonsyndromic hearing loss 22

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 13, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002467366.1

Allele description [Variation Report for NM_144672.4(OTOA):c.1537del (p.Ala513fs)]

NM_144672.4(OTOA):c.1537del (p.Ala513fs)

Gene:
OTOA:otoancorin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_144672.4(OTOA):c.1537del (p.Ala513fs)
HGVS:
  • NC_000016.10:g.21716955del
  • NG_012973.2:g.57823del
  • NM_001161683.2:c.1300del
  • NM_144672.4:c.1537delMANE SELECT
  • NM_170664.3:c.565del
  • NP_001155155.1:p.Ala434fs
  • NP_653273.3:p.Ala513fs
  • NP_733764.1:p.Ala189fs
  • NC_000016.9:g.21728276del
  • NM_144672.4:c.1534delGMANE SELECT
Protein change:
A189fs
Molecular consequence:
  • NM_001161683.2:c.1300del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144672.4:c.1537del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_170664.3:c.565del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 22
Synonyms:
Deafness, autosomal recessive 22
Identifiers:
MONDO: MONDO:0011762; MedGen: C1846896; Orphanet: 90636; OMIM: 607039

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002762665Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
criteria provided, single submitter

(ClinGen HL ACMG Specifications v1)		Pathogenic
(Dec 13, 2022) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Han Chinesematernalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]
PMID:
30311386
PMCID:
PMC6188673

Details of each submission

From Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, SCV002762665.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Han Chinese1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 17, 2022