NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter) AND Pendred syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 5, 2021
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:: RCV000410617.4

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter)]

NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter)

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.2228T>A (p.Leu743Ter)

HGVS:

NC_000007.14:g.107710192T>A
NG_008489.1:g.54558T>A
NM_000441.2:c.2228T>AMANE SELECT
NP_000432.1:p.Leu743Ter
NC_000007.13:g.107350637T>A
NM_000441.1:c.2228T>A

Protein change:

L743*

Links:

dbSNP: rs1057517303

NCBI 1000 Genomes Browser:

rs1057517303

Molecular consequence:

NM_000441.2:c.2228T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Pendred syndrome (PDS)
Synonyms:: DEAFNESS WITH GOITER; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; THYROID DYSHORMONOGENESIS 2B; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010134; MedGen: C0271829; Orphanet: 705; OMIM: 274600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487069	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Pathogenic (Oct 3, 2016)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23185506, 25788563, 24105851 mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf, Citation Link,
SCV002026980	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 5, 2021)	germline	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

SCV000487069

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Pathogenic
(Oct 3, 2016)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf,

Citation Link,

SCV002026980

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 5, 2021)

germline

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	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.

Yuan Y, Guo W, Tang J, Zhang G, Wang G, Han M, Zhang X, Yang S, He DZ, Dai P.

PLoS One. 2012;7(11):e49984. doi: 10.1371/journal.pone.0049984. Epub 2012 Nov 21.

PubMed [citation]

PMID:: 23185506
PMCID:: PMC3503781

Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.

Nishio SY, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:49S-60S. doi: 10.1177/0003489415575059. Epub 2015 Mar 18.

PubMed [citation]

PMID:: 25788563

See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000487069.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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

From Genome-Nilou Lab, SCV002026980.1

#	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	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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