GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3 AND Sensorineural hearing loss disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 4, 2019
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:: RCV000787295.3

Allele description [Variation Report for GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3]

GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3

Genes:

MRNIP:MRN complex interacting protein [Gene - OMIM - HGNC]
RASGEF1C:RasGEF domain family member 1C [Gene - HGNC]
SPATA31J1:SPATA31 subfamily J member 1 [Gene - HGNC]
TBC1D9B:TBC1 domain family member 9B [Gene - OMIM - HGNC]
MGAT4B:alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B [Gene - OMIM - HGNC]
CANX:calnexin [Gene - OMIM - HGNC]
CBY3:chibby family member 3 [Gene - OMIM - HGNC]
LTC4S:leukotriene C4 synthase [Gene - OMIM - HGNC]
MAML1:mastermind like transcriptional coactivator 1 [Gene - OMIM - HGNC]
RNF130:ring finger protein 130 [Gene - OMIM - HGNC]
SQSTM1:sequestosome 1 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

5q35.3

Genomic location:

Chr5: 179065654 - 179541490 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3

HGVS:

Observations:

Condition(s)

Name:: Sensorineural hearing loss disorder
Synonyms:: Sensorineural hearing loss; Sensorineural hearing impairment
Identifiers:: MONDO: MONDO:0020678; MeSH: D006319; MedGen: C0018784; Human Phenotype Ontology: HP:0000407

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000926231	Institute of Human Genetics, University of Goettingen	no assertion criteria provided	Uncertain significance (Apr 4, 2019)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000926231

Institute of Human Genetics, University of Goettingen

no assertion criteria provided

Uncertain significance
(Apr 4, 2019)

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, University of Goettingen, SCV000926231.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Sep 16, 2024

ClinVar

Relating variation to medicine

GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3 AND Sensorineural hearing loss disorder

Allele description [Variation Report for GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3]

GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From Institute of Human Genetics, University of Goettingen, SCV000926231.1