NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs) AND Autosomal recessive nonsyndromic hearing loss 4

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 1, 2017
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:: RCV000515662.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs)]

NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs)

Genes:

LOC123956210:Sharpr-MPRA regulatory region 3291 [Gene]
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

7q22.3

Genomic location:

Preferred name:

NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs)

HGVS:

NC_000007.14:g.107710070_107710074dup
NG_008489.1:g.54436_54440dup
NM_000441.2:c.2106_2110dupMANE SELECT
NP_000432.1:p.Glu704fs
NC_000007.13:g.107350515_107350519dup
NM_000441.1:c.2106_2110dup

Protein change:

E704fs

Links:

OMIM: 605646.0015; dbSNP: rs1554362735

NCBI 1000 Genomes Browser:

rs1554362735

Molecular consequence:

NM_000441.2:c.2106_2110dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 4 (DFNB4)
Synonyms:: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; Nonsyndromic enlarged vestibular aqueduct (NSEVA); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010933; MedGen: C3538946; Orphanet: 90636; OMIM: 600791

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025269	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000611822	Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center	criteria provided, single submitter (Submitter's publication)	Pathogenic (Jul 1, 2017)	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

SCV000025269

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 1999)

germline

literature only

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

SCV000611822

Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Jul 1, 2017)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.

Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ.

Hum Genet. 1999 Feb;104(2):188-92.

PubMed [citation]

PMID:: 10190331

Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss.

Okamoto Y, Mutai H, Nakano A, Arimoto Y, Sugiuchi T, Masuda S, Morimoto N, Sakamoto H, Ogahara N, Takagi A, Taiji H, Kaga K, Ogawa K, Matsunaga T.

Laryngoscope. 2014 Apr;124(4):E134-40. doi: 10.1002/lary.24368. Epub 2013 Dec 17.

PubMed [citation]

PMID:: 24105851

Details of each submission

From OMIM, SCV000025269.3

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

Description

For discussion of the 5-bp insertion in the SLC26A4 gene (2111insGCTGG) that was found in compound heterozygous state in patients with autosomal recessive deafness-4 with enlarged vestibular aqueduct (DFNB4; 600791) by Usami et al. (1999), see 605646.0014.

#	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

From Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center, SCV000611822.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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