NM_000441.2(SLC26A4):c.1707+5G>A AND Pendred syndrome

Clinical significance:Pathogenic (Last evaluated: Sep 7, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000669310.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1707+5G>A]

NM_000441.2(SLC26A4):c.1707+5G>A

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.1707+5G>A
Other names:
IVS15+5G>A
HGVS:
  • NC_000007.14:g.107700180G>A
  • NG_008489.1:g.44546G>A
  • NM_000441.2:c.1707+5G>AMANE SELECT
  • NC_000007.13:g.107340625G>A
  • NM_000441.1:c.1707+5G>A
Links:
dbSNP: rs192366176
NCBI 1000 Genomes Browser:
rs192366176
Molecular consequence:
  • NM_000441.2:c.1707+5G>A - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]

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
SCV000794052Counsylcriteria provided, single submitter
Pathogenic
(Sep 7, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.

Ganaha A, Kaname T, Yanagi K, Naritomi K, Tono T, Usami S, Suzuki M.

BMC Med Genet. 2013 May 24;14:56. doi: 10.1186/1471-2350-14-56.

PubMed [citation]
PMID:
23705809
PMCID:
PMC3664218

Details of each submission

From Counsyl, SCV000794052.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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