NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) AND Autosomal recessive nonsyndromic hearing loss 4

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 27, 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:: RCV001004619.6

Allele description [Variation Report for NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)]

NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)

Genes:

SLC26A4-AS1:SLC26A4 antisense RNA 1 [Gene - HGNC]
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.3

Genomic location:

Preferred name:

NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)

HGVS:

NC_000007.14:g.107661788C>G
NG_008489.1:g.6154C>G
NM_000441.2:c.147C>GMANE SELECT
NP_000432.1:p.Ser49Arg
NC_000007.13:g.107302233C>G
NM_000441.1:c.147C>G
NM_000441.2(SLC26A4):c.147C>GMANE SELECT
NR_028137.1:n.11G>C

Protein change:

S49R

Links:

dbSNP: rs756969021

NCBI 1000 Genomes Browser:

rs756969021

Molecular consequence:

NM_000441.2:c.147C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_028137.1:n.11G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

functionally_normal [Sequence Ontology: SO:0002219]

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
SCV000994859	National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center See additional submitters The Hugh Knowles Center for Clinical and Basic Science in Hearing and Its Disorders, Northwestern University	no assertion criteria provided	other (Aug 20, 2019)	germline	clinical testing, in vitro	PubMed (2) [See all records that cite these PMIDs] 25149764, 31599023
SCV001326719	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 17443271, 23151025 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000994859

National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center

See additional submitters

no assertion criteria provided

other
(Aug 20, 2019)

germline

clinical testing, in vitro

PubMed (2)
[See all records that cite these PMIDs]

SCV001326719

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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, in vitro
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss.

Du W, Cheng J, Ding H, Jiang Z, Guo Y, Yuan H.

Genomics. 2014 Oct;104(4):264-70. doi: 10.1016/j.ygeno.2014.07.009. Epub 2014 Aug 19.

PubMed [citation]

PMID:: 25149764

Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants.

Wasano K, Takahashi S, Rosenberg SK, Kojima T, Mutai H, Matsunaga T, Ogawa K, Homma K.

Hum Mutat. 2020 Jan;41(1):316-331. doi: 10.1002/humu.23930. Epub 2019 Oct 26.

PubMed [citation]

PMID:: 31599023
PMCID:: PMC6930342

See all PubMed Citations (4)

Details of each submission

From National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, SCV000994859.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)
2	not provided	not provided	not provided	not provided	in vitro	PubMed (2)

Description

Benign effect in vitro experiment

#	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
2	germline	yes	not provided	not provided	assert pathogenicity		not provided	not provided	not provided	not provided

From Illumina Laboratory Services, Illumina, SCV001326719.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Apr 6, 2024

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