NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) AND Autosomal recessive nonsyndromic hearing loss 4

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 28, 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:: RCV001162821.12

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)]

NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)

Gene:

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.2218G>A (p.Gly740Ser)

HGVS:

NC_000007.14:g.107710182G>A
NG_008489.1:g.54548G>A
NM_000441.2:c.2218G>AMANE SELECT
NP_000432.1:p.Gly740Ser
NC_000007.13:g.107350627G>A
NM_000441.1:c.2218G>A
O43511:p.Gly740Ser
c.2218G>A

Protein change:

G740S

Links:

UniProtKB: O43511#VAR_027245; dbSNP: rs17154353

NCBI 1000 Genomes Browser:

rs17154353

Molecular consequence:

NM_000441.2:c.2218G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001324794	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 28, 2017)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 19429184, 26035154, 18285825, 22116359, 24860705, 19017801, 22116358 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001324794

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 28, 2017)

germline

clinical testing

PubMed (7)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

An association study of the SLC26A4 gene in children with mental retardation.

Li J, Zhang F, Gao J, Cai Z, Zhao Q, Xing Y, Xu J, Liu Y, Shao L, Che R, Wei Z, He L.

Neurosci Lett. 2009 Jul 3;457(3):155-8. doi: 10.1016/j.neulet.2009.03.099. Epub 2009 Apr 5.

PubMed [citation]

PMID:: 19429184

Probing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics Simulations.

Yao J, Qian X, Bao J, Wei Q, Lu Y, Zheng H, Cao X, Xing G.

Sci Rep. 2015 Jun 2;5:10831. doi: 10.1038/srep10831.

PubMed [citation]

PMID:: 26035154
PMCID:: PMC4451684

See all PubMed Citations (7)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001324794.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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: Nov 3, 2024

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