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NM_000441.2(SLC26A4):c.164+2T>C AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 26, 2012
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:
RCV000036453.5

Allele description [Variation Report for NM_000441.2(SLC26A4):c.164+2T>C]

NM_000441.2(SLC26A4):c.164+2T>C

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.164+2T>C
HGVS:
  • NC_000007.14:g.107661807T>C
  • NG_008489.1:g.6173T>C
  • NM_000441.2:c.164+2T>CMANE SELECT
  • NC_000007.13:g.107302252T>C
  • NM_000441.1:c.164+2T>C
  • c.164+2T>C
Links:
dbSNP: rs397516420
NCBI 1000 Genomes Browser:
rs397516420
Molecular consequence:
  • NM_000441.2:c.164+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
2

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
SCV000060108Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Mar 26, 2012) 		germlineclinical testing

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

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not 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, SCV000060108.6

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

Description

The 164+2T>C variant in SLC26A4 has not been reported in the literature. However , this variant has been previously identified by our laboratory in one individua l with hearing loss and EVA who had a second SLC26A4 variant. The 164+2T>C varia nt is predicted to cause abnormal splicing because the nucleotide substitution o ccurs in the invariant region of the splice consensus sequence. In summary, this variant meets our criteria to be classified as pathogenic.

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

Last Updated: Sep 29, 2024