NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter) AND Autosomal recessive nonsyndromic hearing loss 28

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2006
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:: RCV000001556.3

Allele description [Variation Report for NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter)]

NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter)

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.1741C>T (p.Gln581Ter)

HGVS:

NC_000022.11:g.37724297C>T
NG_012857.1:g.32310C>T
NM_001039141.3:c.1741C>TMANE SELECT
NP_001034230.1:p.Gln581Ter
NC_000022.10:g.38120304C>T

Protein change:

Q581*; GLN581TER

Links:

OMIM: 609761.0002; dbSNP: rs118204027

NCBI 1000 Genomes Browser:

rs118204027

Molecular consequence:

NM_001039141.3:c.1741C>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021711	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021711

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2006)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.

Shahin H, Walsh T, Sobe T, Abu Sa'ed J, Abu Rayan A, Lynch ED, Lee MK, Avraham KB, King MC, Kanaan M.

Am J Hum Genet. 2006 Jan;78(1):144-52. Epub 2005 Nov 21.

PubMed [citation]

PMID:: 16385458
PMCID:: PMC1380212

Details of each submission

From OMIM, SCV000021711.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 3 Palestinian Muslim families with autosomal recessive deafness (DFNB28; 609823), Shahin et al. (2006) found homozygosity for a 1741C-T transition in exon 5 of the TRIOBP gene that was predicted to result in a gln581-to-ter mutation (Q581X). Both R347X and Q581X led to truncation of the long TRIOBP isoform but were predicted to have no effect on the short TRIOBP isoform, since the latter is transcribed from an alternate first exon.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 20, 2024

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