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NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 8, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000036487.6

Allele description [Variation Report for NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs)]

NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs)

Gene:
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs)
HGVS:
  • NC_000007.13:g.107303868_107303872del
  • NC_000007.14:g.107663425_107663429del
  • NG_008489.1:g.7791_7795del
  • NM_000441.2:c.294_298delMANE SELECT
  • NP_000432.1:p.Thr99fs
  • NC_000007.13:g.107303868_107303872del
  • NC_000007.13:g.107303870_107303874del
  • NC_000007.13:g.107303870_107303874delCACGC
  • NM_000441.1:c.294_298delCACGC
  • NM_000441.2:c.292_296delMANE SELECT
  • c.294_298delCACGC
  • p.Thr99fs
Protein change:
T99fs
Links:
dbSNP: rs111033241
NCBI 1000 Genomes Browser:
rs111033241
Molecular consequence:
  • NM_000441.2:c.294_298del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000060142Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Nov 8, 2015) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical testing

Citations

PubMed

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, Mass General Brigham Personalized Medicine, SCV000060142.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

The 294_298delCACGC variant is predicted to cause a frameshift, which alters th e protein?s amino acid sequence beginning at position 99 and leads to a prematur e termination codon 81 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. It was also identified in a patient o f Asian descent with hearing loss and bilateral temporal bone abnormalities and a second likely pathogenic variant c.706C>G (p.Leu236Val).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Sep 29, 2024