NM_000441.2(SLC26A4):c.2107C>G (p.Leu703Val) AND Autosomal recessive nonsyndromic hearing loss 4

Germline classification:: Pathogenic (1 submission)
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:: RCV002051743.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2107C>G (p.Leu703Val)]

NM_000441.2(SLC26A4):c.2107C>G (p.Leu703Val)

Genes:

LOC123956210:Sharpr-MPRA regulatory region 3291 [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.2107C>G (p.Leu703Val)

HGVS:

NC_000007.14:g.107710071C>G
NG_008489.1:g.54437C>G
NM_000441.2:c.2107C>GMANE SELECT
NP_000432.1:p.Leu703Val
NC_000007.13:g.107350516C>G

Protein change:

L703V

Links:

dbSNP: rs2129319905

NCBI 1000 Genomes Browser:

rs2129319905

Molecular consequence:

NM_000441.2:c.2107C>G - 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
SCV001949948	Deafness Molecular Diagnostic Center, Chinese PLA General Hospital	no assertion criteria provided	Pathogenic	paternal	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001949948

Deafness Molecular Diagnostic Center, Chinese PLA General Hospital

no assertion criteria provided

Pathogenic

paternal

case-control

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	yes	not provided	not provided	not provided	not provided	not provided	case-control

Details of each submission

From Deafness Molecular Diagnostic Center, Chinese PLA General Hospital, SCV001949948.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	not provided

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

Last Updated: Sep 29, 2024

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