NM_001378609.3(OTOGL):c.975del (p.Leu325fs) AND Meniere disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 3, 2024
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:: RCV004567497.1

Allele description [Variation Report for NM_001378609.3(OTOGL):c.975del (p.Leu325fs)]

NM_001378609.3(OTOGL):c.975del (p.Leu325fs)

Gene:

OTOGL:otogelin like [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q21.31

Genomic location:

Preferred name:

NM_001378609.3(OTOGL):c.975del (p.Leu325fs)

HGVS:

NC_000012.12:g.80239362del
NG_033008.1:g.34910del
NM_001368062.3:c.975del
NM_001378609.3:c.975delMANE SELECT
NM_001378610.3:c.975del
NM_173591.7:c.975del
NP_001354991.2:p.Leu325fs
NP_001365538.2:p.Leu325fs
NP_001365539.2:p.Leu325fs
NP_775862.4:p.Leu325fs
NC_000012.11:g.80633142del
NC_000012.11:g.80633142delG
NC_000012.12:g.80239362delG
NM_173591.3:c.948del
NM_173591.3:c.948delG
p.Leu316PhefsX6

Protein change:

L325fs

Links:

dbSNP: rs766753922

NCBI 1000 Genomes Browser:

rs766753922

Molecular consequence:

NM_001368062.3:c.975del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378609.3:c.975del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378610.3:c.975del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_173591.7:c.975del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Meniere disease
Synonyms:: Ménière's disease
Identifiers:: MONDO: MONDO:0007972; MedGen: C0025281; OMIM: 156000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005049940	Center for Computational Biology & Bioinformatics, University of California, San Diego	no assertion criteria provided	Uncertain significance (Jun 3, 2024)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005049940

Center for Computational Biology & Bioinformatics, University of California, San Diego

no assertion criteria provided

Uncertain significance
(Jun 3, 2024)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Center for Computational Biology & Bioinformatics, University of California, San Diego, SCV005049940.1

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

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

Last Updated: Jun 23, 2024

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