NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) AND Rare genetic deafness

Clinical significance:Likely pathogenic (Last evaluated: Mar 22, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000036476.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)]

NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)

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.2145G>T (p.Lys715Asn)
HGVS:
  • NC_000007.14:g.107710109G>T
  • NG_008489.1:g.54475G>T
  • NM_000441.2:c.2145G>TMANE SELECT
  • NP_000432.1:p.Lys715Asn
  • NC_000007.13:g.107350554G>T
  • NM_000441.1:c.2145G>T
  • NM_000441.2(SLC26A4):c.2145G>TMANE SELECT
  • c.2145G>T
Protein change:
K715N
Links:
NCBI 1000 Genomes Browser:
rs397516427
Molecular consequence:
  • NM_000441.2:c.2145G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: CN826980; Orphanet: 96210

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000060131Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Mar 22, 2012)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

Anwar S, Riazuddin S, Ahmed ZM, Tasneem S, Ateeq-ul-Jaleel, Khan SY, Griffith AJ, Friedman TB, Riazuddin S.

J Hum Genet. 2009 May;54(5):266-70. doi: 10.1038/jhg.2009.21. Epub 2009 Mar 13.

PubMed [citation]
PMID:
19287372

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

Dai P, Stewart AK, Chebib F, Hsu A, Rozenfeld J, Huang D, Kang D, Lip V, Fang H, Shao H, Liu X, Yu F, Yuan H, Kenna M, Miller DT, Shen Y, Yang W, Zelikovic I, Platt OS, Han D, Alper SL, Wu BL.

Physiol Genomics. 2009 Aug 7;38(3):281-90. doi: 10.1152/physiolgenomics.00047.2009. Epub 2009 Jun 9. Erratum in: Physiol Genomics. 2010 Feb;40(3):216.

PubMed [citation]
PMID:
19509082
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000060131.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

The Lys715Asn variant in SLC26A4 has been reported in a heterozygous state in th ree probands with hearing loss and was absent from 100 control samples (Dia 2009 , Anwar 2009). In addition, functional studies showed reduced Cl- anion exchange activity compared to the wild type (Dia 2009). Furthermore, the presence of thi s variant in combination with a pathogenic variant and in an individual with cli nical features of hearing loss and EVA, increases the likelihood that the Lys715 Asn variant is pathogenic. In summary, this variant is likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Oct 6, 2021

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