NC_000022.10:g.(?_38097373)_(39306081_?)del AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 17, 2022
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:: RCV003122369.4

Allele description [Variation Report for NC_000022.10:g.(?_38097373)_(39306081_?)del]

NC_000022.10:g.(?_38097373)_(39306081_?)del

Genes:

BAIAP2L2:BAR/IMD domain containing adaptor protein 2 like 2 [Gene - OMIM - HGNC]
DDX17:DEAD-box helicase 17 [Gene - OMIM - HGNC]
DMC1:DNA meiotic recombinase 1 [Gene - OMIM - HGNC]
GTPBP1:GTP binding protein 1 [Gene - OMIM - HGNC]
H1-0:H1.0 linker histone [Gene - OMIM - HGNC]
JOSD1:Josephin domain containing 1 [Gene - OMIM - HGNC]
KDELR3:KDEL endoplasmic reticulum protein retention receptor 3 [Gene - OMIM - HGNC]
MAFF:MAF bZIP transcription factor F [Gene - OMIM - HGNC]
MICALL1:MICAL like 1 [Gene - OMIM - HGNC]
POLR2F:RNA polymerase II, I and III subunit F [Gene - OMIM - HGNC]
SOX10:SRY-box transcription factor 10 [Gene - OMIM - HGNC]
SUN2:Sad1 and UNC84 domain containing 2 [Gene - OMIM - HGNC]
TRIOBP:TRIO and F-actin binding protein [Gene - OMIM - HGNC]
ANKRD54:ankyrin repeat domain 54 [Gene - OMIM - HGNC]
CSNK1E:casein kinase 1 epsilon [Gene - OMIM - HGNC]
CBY1:chibby 1, beta catenin antagonist [Gene - OMIM - HGNC]
CBX6:chromobox 6 [Gene - OMIM - HGNC]
C22orf23:chromosome 22 open reading frame 23 [Gene - OMIM - HGNC]
DNAL4:dynein axonemal light chain 4 [Gene - OMIM - HGNC]
EIF3L:eukaryotic translation initiation factor 3 subunit L [Gene - OMIM - HGNC]
FAM227A:family with sequence similarity 227 member A [Gene - HGNC]
GALR3:galanin receptor 3 [Gene - OMIM - HGNC]
GCAT:glycine C-acetyltransferase [Gene - OMIM - HGNC]
MIR659:microRNA 659 [Gene - OMIM - HGNC]
NPTXR:neuronal pentraxin receptor [Gene - OMIM - HGNC]
PLA2G6:phospholipase A2 group VI [Gene - OMIM - HGNC]
KCNJ4:potassium inwardly rectifying channel subfamily J member 4 [Gene - OMIM - HGNC]
PICK1:protein interacting with PRKCA 1 [Gene - OMIM - HGNC]
SLC16A8:solute carrier family 16 member 8 [Gene - OMIM - HGNC]
TOMM22:translocase of outer mitochondrial membrane 22 [Gene - OMIM - HGNC]
TMEM184B:transmembrane protein 184B [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

22q13.1

Genomic location:

Chr22: 38097373 - 39306081 (on Assembly GRCh37)

Preferred name:

NC_000022.10:g.(?_38097373)_(39306081_?)del

HGVS:

NC_000022.10:g.(?_38097373)_(39306081_?)del

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003790955	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jun 17, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 16385457, 16385458, 20510926, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003790955

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jun 17, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV003790955.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the TRIOBP gene has been identified. Loss-of-function variants in TRIOBP are known to be pathogenic (PMID: 16385457, 16385458, 20510926). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with TRIOBP-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024

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