NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs) AND Rare genetic deafness

Clinical significance:Likely pathogenic (Last evaluated: Mar 7, 2007)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000036448.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs)]

NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs)

Gene:
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs)
HGVS:
  • NC_000007.14:g.107698045_107698046insC
  • NG_008489.1:g.42411_42412insC
  • NM_000441.2:c.1548_1549insCMANE SELECT
  • NP_000432.1:p.Ser517fs
  • NC_000007.13:g.107338490_107338491insC
  • NM_000441.1:c.1548_1549insC
  • c.1548_1549insC
  • p.Ser517fs
Protein change:
S517fs
Links:
dbSNP: rs111033317
NCBI 1000 Genomes Browser:
rs111033317
Molecular consequence:
  • NM_000441.2:c.1548_1549insC - frameshift variant - [Sequence Ontology: SO:0001589]
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
SCV000060103Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Mar 7, 2007)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ.

J Med Genet. 2003 Apr;40(4):242-8.

PubMed [citation]
PMID:
12676893
PMCID:
PMC1735432

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000060103.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

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