NM_000441.2(SLC26A4):c.2110G>A (p.Glu704Lys) AND Pendred syndrome

Clinical significance:Uncertain significance (Last evaluated: Apr 2, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000673751.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2110G>A (p.Glu704Lys)]

NM_000441.2(SLC26A4):c.2110G>A (p.Glu704Lys)

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.2110G>A (p.Glu704Lys)
HGVS:
  • NC_000007.14:g.107710074G>A
  • NG_008489.1:g.54440G>A
  • NM_000441.2:c.2110G>AMANE SELECT
  • NP_000432.1:p.Glu704Lys
  • NC_000007.13:g.107350519G>A
  • NM_000441.1:c.2110G>A
Protein change:
E704K
Links:
dbSNP: rs147733656
NCBI 1000 Genomes Browser:
rs147733656
Molecular consequence:
  • NM_000441.2:c.2110G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000798988Counsylcriteria provided, single submitter
Uncertain significance
(Apr 2, 2018)
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

Identification of SLC26A4 mutations p.L582LfsX4, p.I188T and p.E704K in a Chinese family with large vestibular aqueduct syndrome (LVAS).

Li Y, Zhu B, Su J, Yin Y, Yu F.

Int J Pediatr Otorhinolaryngol. 2016 Dec;91:1-5. doi: 10.1016/j.ijporl.2016.08.026. Epub 2016 Aug 30.

PubMed [citation]
PMID:
27863619

Details of each submission

From Counsyl, SCV000798988.1

#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: Oct 7, 2021

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