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NM_001128228.3(TPRN):c.53G>A (p.Trp18Ter) AND Autosomal recessive nonsyndromic hearing loss 79

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 26, 2019
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:
RCV000770878.1

Allele description [Variation Report for NM_001128228.3(TPRN):c.53G>A (p.Trp18Ter)]

NM_001128228.3(TPRN):c.53G>A (p.Trp18Ter)

Genes:
LOC130003093:ATAC-STARR-seq lymphoblastoid silent region 20590 [Gene]
TPRN:taperin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_001128228.3(TPRN):c.53G>A (p.Trp18Ter)
HGVS:
  • NC_000009.12:g.137200659C>T
  • NG_027801.2:g.8535G>A
  • NM_001128228.3:c.53G>AMANE SELECT
  • NP_001121700.2:p.Trp18Ter
  • LRG_1360t1:c.53G>A
  • LRG_1360:g.8535G>A
  • LRG_1360p1:p.Trp18Ter
  • NC_000009.11:g.140095111C>T
  • NG_027801.1:g.5053G>A
Protein change:
W18*
Links:
dbSNP: rs1564386891
NCBI 1000 Genomes Browser:
rs1564386891
Molecular consequence:
  • NM_001128228.3:c.53G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 79
Synonyms:
Deafness, autosomal recessive 79
Identifiers:
MONDO: MONDO:0013215; MedGen: C2750082; Orphanet: 90636; OMIM: 613307

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000902392Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
no assertion criteria provided
Pathogenic
(Feb 26, 2019) 		inheritedcase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes11not providednot providedyescase-control

Details of each submission

From Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, SCV000902392.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyescase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not provided1not provided

Last Updated: Oct 14, 2023