NM_001042702.5(PJVK):c.113dup (p.Lys41fs) AND Autosomal recessive nonsyndromic hearing loss 59

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2007
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:: RCV000001362.3

Allele description [Variation Report for NM_001042702.5(PJVK):c.113dup (p.Lys41fs)]

NM_001042702.5(PJVK):c.113dup (p.Lys41fs)

Gene:

PJVK:pejvakin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001042702.5(PJVK):c.113dup (p.Lys41fs)

HGVS:

NC_000002.12:g.178453522dup
NG_009053.1:g.2710dup
NG_012186.1:g.7087dup
NM_001042702.5:c.113dupMANE SELECT
NM_001353775.2:c.122dup
NM_001353776.2:c.218dup
NM_001353777.1:c.-334-31dup
NM_001353778.2:c.-365dup
NM_001369912.1:c.113dup
NP_001036167.1:p.Lys41fs
NP_001340704.1:p.Lys44fs
NP_001340705.1:p.Lys76fs
NP_001356841.1:p.Lys41fs
NC_000002.11:g.179318249dup
NM_001042702.3:c.113dupT

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

K41fs

Links:

OMIM: 610219.0003; dbSNP: rs1559365985

NCBI 1000 Genomes Browser:

rs1559365985

Molecular consequence:

NM_001353778.2:c.-365dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001042702.5:c.113dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353775.2:c.122dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353776.2:c.218dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369912.1:c.113dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353777.1:c.-334-31dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 59
Synonyms:: Deafness, autosomal recessive 59
Identifiers:: MONDO: MONDO:0012445; MedGen: C1857744; Orphanet: 90636; OMIM: 610220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021512	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021512

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2007)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.

Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ.

Hum Mutat. 2007 Jun;28(6):571-7.

PubMed [citation]

PMID:: 17301963

Details of each submission

From OMIM, SCV000021512.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 3 affected sibs from a consanguineous Moroccan family with autosomal recessive nonsyndromic deafness (610220), Ebermann et al. (2007) identified a homozygous 1-bp insertion (113insT) in exon 2 of the DFNB59 gene, predicted to result in a truncated protein of 47 amino acids. The hearing loss was progressive, but hearing aids compensated for the deficit in childhood. Audiologic tests excluded auditory neuropathy, and other tests showed impaired central vestibular function.

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

Last Updated: Apr 23, 2022

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