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NM_001039141.3(TRIOBP):c.5300_5301del (p.Leu1767fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 31, 2023
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:
RCV003683035.1

Allele description

NM_001039141.3(TRIOBP):c.5300_5301del (p.Leu1767fs)

Gene:
TRIOBP:TRIO and F-actin binding protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q13.1
Genomic location:
Preferred name:
NM_001039141.3(TRIOBP):c.5300_5301del (p.Leu1767fs)
HGVS:
  • NC_000022.11:g.37741010_37741011del
  • NG_012857.1:g.49023_49024del
  • NG_145689.1:g.466_467del
  • NM_001039141.3:c.5300_5301delMANE SELECT
  • NP_001034230.1:p.Leu1767fs
  • NC_000022.10:g.38137017_38137018del
Protein change:
L1767fs
Molecular consequence:
  • NM_001039141.3:c.5300_5301del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004407074Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 31, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.

Riazuddin S, Khan SN, Ahmed ZM, Ghosh M, Caution K, Nazli S, Kabra M, Zafar AU, Chen K, Naz S, Antonellis A, Pavan WJ, Green ED, Wilcox ER, Friedman PL, Morell RJ, Riazuddin S, Friedman TB.

Am J Hum Genet. 2006 Jan;78(1):137-43. Epub 2005 Nov 21.

PubMed [citation]
PMID:
16385457
PMCID:
PMC1380211

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
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV004407074.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Leu1767Argfs*61) in the TRIOBP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRIOBP are known to be pathogenic (PMID: 16385457, 16385458, 20510926). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with TRIOBP-related conditions.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024