NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) AND Pendred syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 5, 2021
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:: RCV000666548.3

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)]

NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)

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.1541A>G (p.Gln514Arg)

HGVS:

NC_000007.14:g.107696036A>G
NG_008489.1:g.40402A>G
NM_000441.2:c.1541A>GMANE SELECT
NP_000432.1:p.Gln514Arg
NC_000007.13:g.107336481A>G
NM_000441.1:c.1541A>G
O43511:p.Gln514Arg
c.1541A>G

Protein change:

Q514R

Links:

UniProtKB: O43511#VAR_027241; dbSNP: rs111033316

NCBI 1000 Genomes Browser:

rs111033316

Molecular consequence:

NM_000441.2:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]

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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000790855	Counsyl	no assertion criteria provided	Likely pathogenic (Apr 12, 2017)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 23555729, 19318451, 25394566, 26969326, 19204907
SCV002026938	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

SCV000790855

Counsyl

no assertion criteria provided

Likely pathogenic
(Apr 12, 2017)

unknown

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV002026938

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

Citations

PubMed

Etiology and audiological outcomes at 3 years for 364 children in Australia.

Dahl HH, Ching TY, Hutchison W, Hou S, Seeto M, Sjahalam-King J.

PLoS One. 2013;8(3):e59624. doi: 10.1371/journal.pone.0059624. Epub 2013 Mar 28.

PubMed [citation]

PMID:: 23555729
PMCID:: PMC3610796

Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister.

Borck G, Seewi O, Jung A, Schönau E, Kubisch C.

J Clin Endocrinol Metab. 2009 Jun;94(6):2106-9. doi: 10.1210/jc.2008-2361. Epub 2009 Mar 24.

PubMed [citation]

PMID:: 19318451

See all PubMed Citations (6)

Details of each submission

From Counsyl, SCV000790855.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	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, SCV002026938.1

#	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: Oct 26, 2024

ClinVar

Relating variation to medicine