NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val) AND Autosomal recessive nonsyndromic hearing loss 4

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jun 21, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001580202.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val)]

NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val)

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.1003T>G (p.Phe335Val)

HGVS:

NC_000007.14:g.107689054T>G
NG_008489.1:g.33420T>G
NM_000441.2:c.1003T>GMANE SELECT
NP_000432.1:p.Phe335Val
NC_000007.13:g.107329499T>G

Protein change:

F335V

Links:

dbSNP: rs111033212

NCBI 1000 Genomes Browser:

rs111033212

Molecular consequence:

NM_000441.2:c.1003T>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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gi|2677328225|dbj|PE269064.1||pat|K 0230057487|1239

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Related gene-specific medical variations for Gene (Select 4935) (24)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001809836	Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo	criteria provided, single submitter (ClinGen HL ACMG Specifications v1)	Likely pathogenic	germline	research	PubMed (2) [See all records that cite these PMIDs] 30311386, 29739340
SCV004201907	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 21, 2023)	unknown	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

SCV001809836

Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo

criteria provided, single submitter

(ClinGen HL ACMG Specifications v1)

Likely pathogenic

germline

research

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

SCV004201907

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 21, 2023)

unknown

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	yes	1	not provided	not provided	1	yes	research
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]

PMID:: 30311386
PMCID:: PMC6188673

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

Nonose RW, Lezirovitz K, de Mello Auricchio MTB, Batissoco AC, Yamamoto GL, Mingroni-Netto RC.

BMC Med Genet. 2018 May 8;19(1):73. doi: 10.1186/s12881-018-0585-x.

PubMed [citation]

PMID:: 29739340
PMCID:: PMC5941635

See all PubMed Citations (3)

Details of each submission

From Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo, SCV001809836.1

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

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

From Baylor Genetics, SCV004201907.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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