NM_000441.2(SLC26A4):c.415+7A>G AND Pendred syndrome

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1999)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000005099.4

Allele description [Variation Report for NM_000441.2(SLC26A4):c.415+7A>G]

NM_000441.2(SLC26A4):c.415+7A>G

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.415+7A>G
HGVS:
  • NC_000007.14:g.107672255A>G
  • NG_008489.1:g.16621A>G
  • NM_000441.2:c.415+7A>GMANE SELECT
  • NC_000007.13:g.107312700A>G
  • NM_000441.1:c.415+7A>G
Note:
ClinGen staff contributed the HGVS expression for this variant.
Nucleotide change:
IVS4DS, A-G, +7
Links:
OMIM: 605646.0017; dbSNP: rs765884316
NCBI 1000 Genomes Browser:
rs765884316
Molecular consequence:
  • NM_000441.2:c.415+7A>G - intron variant - [Sequence Ontology: SO:0001627]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000025275OMIMno assertion criteria providedPathogenic
(Jan 1, 1999)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.

López-Bigas N, Rabionet R, de Cid R, Govea N, Gasparini P, Zelante L, Arbonés ML, Estivill X.

Hum Mutat. 1999;14(6):520-6.

PubMed [citation]
PMID:
10571950

Details of each submission

From OMIM, SCV000025275.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Lopez-Bigas et al. (1999) performed mutation analysis of the individual exons of the SLC26A4 gene in a Spanish Pendred syndrome (PDS; 274600) family that showed intrafamilial variability of the deafness phenotype (2 patients with profound and 1 with moderate to severe deafness). They identified a new splice site mutation affecting intron 4 at nucleotide position 639+7. RNA analysis from lymphocytes of the affected patients showed that mutation 639+7A-G generated a new donor splice site, leading to an mRNA with an insertion of 6 nucleotides from intron 4 of SLC26A4. Since the newly created donor splice site was likely to compete with the normal one, variations of the levels of normal and aberrant transcripts of the SLC26A4 gene in the cochlea may explain the variability in the deafness presentation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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