NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) AND Deafness, autosomal recessive 28

Clinical significance:Likely benign (Last evaluated: Dec 26, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001286605.1

Allele description [Variation Report for NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile)]

NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile)

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.584C>T (p.Thr195Ile)
HGVS:
  • NC_000022.11:g.37715890C>T
  • NG_012857.1:g.23903C>T
  • NM_001039141.3:c.584C>TMANE SELECT
  • NP_001034230.1:p.Thr195Ile
  • NC_000022.10:g.38111897C>T
  • NM_001039141.2:c.584C>T
Protein change:
T195I
Links:
dbSNP: rs143157673
NCBI 1000 Genomes Browser:
rs143157673
Molecular consequence:
  • NM_001039141.3:c.584C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal recessive 28 (DFNB28)
Identifiers:
MONDO: MONDO:0012355; MedGen: C1853276; Orphanet: 90636; OMIM: 609823

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001473208ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Dec 26, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001473208.1

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

Last Updated: Jul 10, 2021

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