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NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs) AND Autosomal recessive nonsyndromic hearing loss 28

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 5, 2018
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:
RCV000681528.1

Allele description [Variation Report for NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs)]

NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs)

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.3634_3646del (p.Leu1212fs)
HGVS:
  • NC_000022.11:g.37726190_37726202del
  • NG_012857.1:g.34203_34215del
  • NM_001039141.3:c.3634_3646delMANE SELECT
  • NP_001034230.1:p.Leu1212fs
  • NC_000022.10:g.38122197_38122209del
  • NM_001039141.2:c.3634_3646delCTGATCCCCCAAG
Protein change:
L1212fs
Links:
dbSNP: rs1569042782
NCBI 1000 Genomes Browser:
rs1569042782
Molecular consequence:
  • NM_001039141.3:c.3634_3646del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000807719National Institute on Deafness and Communication Disorders, National Institutes of Health
no assertion criteria provided
Pathogenic
(Jul 5, 2018) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1yesresearch

Details of each submission

From National Institute on Deafness and Communication Disorders, National Institutes of Health, SCV000807719.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jul 29, 2024