NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) AND Pendred syndrome

Clinical significance:Likely pathogenic (Last evaluated: Sep 24, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000169357.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)]

NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)

Gene:
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)
HGVS:
  • NC_000007.14:g.107696015del
  • NG_008489.1:g.40381del
  • NM_000441.2:c.1520delMANE SELECT
  • NP_000432.1:p.Leu506_Leu507insTer
  • NC_000007.13:g.107336459del
  • NC_000007.13:g.107336460del
  • NM_000441.1:c.1520del
  • NM_000441.1:c.1520delT
Links:
dbSNP: rs786204601
NCBI 1000 Genomes Browser:
rs786204601
Molecular consequence:
  • NM_000441.2:c.1520del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000220728Counsylcriteria provided, single submitter
Likely pathogenic
(Sep 24, 2014)
unknownliterature only

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

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

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

Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.

Chai Y, Huang Z, Tao Z, Li X, Li L, Li Y, Wu H, Yang T.

Am J Med Genet A. 2013 Sep;161A(9):2226-33. doi: 10.1002/ajmg.a.36068. Epub 2013 Aug 5.

PubMed [citation]
PMID:
23918157
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000220728.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center