NM_000441.2(SLC26A4):c.1437+2T>G AND Rare genetic deafness

Clinical significance:Pathogenic (Last evaluated: Jul 25, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000036442.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1437+2T>G]

NM_000441.2(SLC26A4):c.1437+2T>G

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.1437+2T>G
HGVS:
  • NC_000007.14:g.107694718T>G
  • NG_008489.1:g.39084T>G
  • NM_000441.2:c.1437+2T>GMANE SELECT
  • NC_000007.13:g.107335163T>G
  • NM_000441.1:c.1437+2T>G
  • c.1437+2T>G
Links:
dbSNP: rs397516418
NCBI 1000 Genomes Browser:
rs397516418
Molecular consequence:
  • NM_000441.2:c.1437+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
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
SCV000060097Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Pathogenic
(Jul 25, 2012)
germlineclinical testing

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

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, Partners HealthCare Personalized Medicine, SCV000060097.6

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

Description

The 1437+2T>G variant in SLC26A4 has not been reported in the literature nor pre viously identified by our laboratory. This variant occurs in the invariant regio n (+/- 1/2) of the splice consensus sequence and is predicted to cause altered s plicing leading to an abnormal or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).

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

Last Updated: Jul 7, 2021

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