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NM_000441.2(SLC26A4):c.42del (p.Glu15fs) AND Deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 10, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000679837.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.42del (p.Glu15fs)]

NM_000441.2(SLC26A4):c.42del (p.Glu15fs)

Genes:
SLC26A4-AS1:SLC26A4 antisense RNA 1 [Gene - HGNC]
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.42del (p.Glu15fs)
HGVS:
  • NC_000007.14:g.107661683del
  • NG_008489.1:g.6049del
  • NM_000441.2:c.42delMANE SELECT
  • NP_000432.1:p.Glu15fs
  • NC_000007.13:g.107302128del
  • NM_000441.1:c.42delC
  • NR_028137.1:n.119del
Protein change:
E15fs
Links:
dbSNP: rs1562817224
NCBI 1000 Genomes Browser:
rs1562817224
Molecular consequence:
  • NM_000441.2:c.42del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_028137.1:n.119del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Deafness
Identifiers:
MedGen: C0011053

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804828Center for Statistical Genetics, Columbia University
no assertion criteria provided
Pathogenic
(Sep 10, 2018) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Center for Statistical Genetics, Columbia University, SCV000804828.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2024