NM_000441.2(SLC26A4):c.2235+2T>C AND Autosomal recessive nonsyndromic hearing loss 4

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001580205.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2235+2T>C]

NM_000441.2(SLC26A4):c.2235+2T>C

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.2235+2T>C

HGVS:

NC_000007.14:g.107710201T>C
NG_008489.1:g.54567T>C
NG_078404.1:g.438T>C
NM_000441.2:c.2235+2T>CMANE SELECT
NC_000007.13:g.107350646T>C
NM_000441.1:c.2235+2T>C

Links:

dbSNP: rs1554362815

NCBI 1000 Genomes Browser:

rs1554362815

Molecular consequence:

NM_000441.2:c.2235+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV001809839	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

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001809839

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]

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

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

Details of each submission

From Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo, SCV001809839.1

#	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

Last Updated: Apr 6, 2024

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