NM_001378609.3(OTOGL):c.6501dup (p.Cys2168fs) AND Autosomal recessive nonsyndromic hearing loss 84B

Germline classification:: Pathogenic (1 submission)
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:: RCV004796440.1

Allele description [Variation Report for NM_001378609.3(OTOGL):c.6501dup (p.Cys2168fs)]

NM_001378609.3(OTOGL):c.6501dup (p.Cys2168fs)

Gene:

OTOGL:otogelin like [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12q21.31

Genomic location:

Preferred name:

NM_001378609.3(OTOGL):c.6501dup (p.Cys2168fs)

HGVS:

NC_000012.12:g.80367730dup
NG_033008.1:g.163278dup
NG_033008.2:g.273195dup
NM_001368062.3:c.6366dup
NM_001378609.3:c.6501dupMANE SELECT
NM_001378610.3:c.6501dup
NM_173591.7:c.6501dup
NP_001354991.2:p.Cys2123fs
NP_001365538.2:p.Cys2168fs
NP_001365539.2:p.Cys2168fs
NP_775862.4:p.Cys2168fs
NC_000012.11:g.80761510dup
NM_173591.3:c.6474dup

Protein change:

C2123fs

Molecular consequence:

NM_001368062.3:c.6366dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378609.3:c.6501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001378610.3:c.6501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_173591.7:c.6501dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 84B
Synonyms:: Deafness, autosomal recessive 84b
Identifiers:: MONDO: MONDO:0013984; MedGen: C3554159; Orphanet: 90636; OMIM: 614944

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005418901	Juno Genomics, Hangzhou Juno Genomics, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005418901

Juno Genomics, Hangzhou Juno Genomics, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Juno Genomics, Hangzhou Juno Genomics, Inc, SCV005418901.1

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

Description

PVS1+PM2_Supporting+PM3_Supporting+PP1+PP4

#	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: Dec 7, 2024

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