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NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter) AND Autosomal recessive nonsyndromic hearing loss 28

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:
RCV000770881.1

Allele description [Variation Report for NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter)]

NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter)

Gene:
TRIOBP:TRIO and F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.1
Genomic location:
Preferred name:
NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter)
HGVS:
  • NC_000022.11:g.37726080C>A
  • NG_012857.1:g.34093C>A
  • NM_001039141.3:c.3524C>AMANE SELECT
  • NP_001034230.1:p.Ser1175Ter
  • NC_000022.10:g.38122087C>A
Protein change:
S1175*
Links:
dbSNP: rs1569042693
NCBI 1000 Genomes Browser:
rs1569042693
Molecular consequence:
  • NM_001039141.3:c.3524C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 28
Synonyms:
Deafness, autosomal recessive 28
Identifiers:
MONDO: MONDO:0012355; MedGen: C1853276; Orphanet: 90636; OMIM: 609823

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000902395Genetic 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 providedinheritedyes22not 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, SCV000902395.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providedyescase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided2not provided2not provided

Last Updated: Apr 23, 2022