NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) AND Pendred syndrome

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Apr 27, 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:: RCV001162820.13

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=)]

NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=)

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.2130C>T (p.Asp710=)

HGVS:

NC_000007.14:g.107710094C>T
NG_008489.1:g.54460C>T
NM_000441.2:c.2130C>TMANE SELECT
NP_000432.1:p.Asp710=
NC_000007.13:g.107350539C>T
NM_000441.1:c.2130C>T
c.2130C>T
p.Asp710Asp

Links:

dbSNP: rs17154347

NCBI 1000 Genomes Browser:

rs17154347

Molecular consequence:

NM_000441.2:c.2130C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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

Recent activity

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glycogen synthase [Marivirga lumbricoides]
glycogen synthase [Marivirga lumbricoides]
gi|1902544944|dbj|GGC36679.1||gnl|W EC|GGC36679

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001324793	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21704276, 19017801 Citation Link,
SCV001459939	Natera, Inc.	no assertion criteria provided	Benign (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001324793

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

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

Citation Link,

SCV001459939

Natera, Inc.

no assertion criteria provided

Benign
(Sep 16, 2020)

germline

clinical testing

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

Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.

Chen N, Tranebjærg L, Rendtorff ND, Schrijver I.

J Mol Diagn. 2011 Jul;13(4):416-26. doi: 10.1016/j.jmoldx.2011.03.003. Epub 2011 Apr 29.

PubMed [citation]

PMID:: 21704276
PMCID:: PMC3123795

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.

Pera A, Dossena S, Rodighiero S, Gandía M, Bottà G, Meyer G, Moreno F, Nofziger C, Hernández-Chico C, Paulmichl M.

Proc Natl Acad Sci U S A. 2008 Nov 25;105(47):18608-13. doi: 10.1073/pnas.0805831105. Epub 2008 Nov 18.

PubMed [citation]

PMID:: 19017801
PMCID:: PMC2584577

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001324793.1

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

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

From Natera, Inc., SCV001459939.1

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

#	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 10, 2024

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