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NM_002906.4(RDX):c.1346del (p.Ala449fs) AND Autosomal recessive nonsyndromic hearing loss 24

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 14, 2021
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:
RCV002271980.1

Allele description [Variation Report for NM_002906.4(RDX):c.1346del (p.Ala449fs)]

NM_002906.4(RDX):c.1346del (p.Ala449fs)

Gene:
RDX:radixin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_002906.4(RDX):c.1346del (p.Ala449fs)
HGVS:
  • NC_000011.10:g.110233478del
  • NG_023044.2:g.68235del
  • NM_001260492.2:c.1346del
  • NM_001260493.2:c.1346del
  • NM_001260494.2:c.938del
  • NM_001260495.2:c.305del
  • NM_001260496.2:c.405-1474del
  • NM_002906.4:c.1346delMANE SELECT
  • NP_001247421.1:p.Ala449fs
  • NP_001247422.1:p.Ala449fs
  • NP_001247423.1:p.Ala313fs
  • NP_001247424.1:p.Ala102fs
  • NP_002897.1:p.Ala449fs
  • NC_000011.9:g.110104203del
  • NM_001260495.2:c.305delC
Protein change:
A102fs
Links:
dbSNP: rs2134302220
NCBI 1000 Genomes Browser:
rs2134302220
Molecular consequence:
  • NM_001260492.2:c.1346del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001260493.2:c.1346del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001260494.2:c.938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001260495.2:c.305del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002906.4:c.1346del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001260496.2:c.405-1474del - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
RNA degradation by nonsense-mediated decay [Variation Ontology: 0347]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 24
Synonyms:
Deafness, autosomal recessive 24
Identifiers:
MONDO: MONDO:0012602; MedGen: C1970239; Orphanet: 90636; OMIM: 611022

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002553196Genetics Laboratory, Department of Biology, Semnan University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 14, 2021) 		inheritedcase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Semnaninheritedyes1not providednot providednot providednot providedcase-control

Citations

PubMed

Nothing to display

Details of each submission

From Genetics Laboratory, Department of Biology, Semnan University, SCV002553196.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Semnan1not providednot providedcase-control PubMed (1)

Description

Clinical examination results of the proband showed bilateral hearing loss.

Description

The WES analysis identified a frameshift mutation in the RDX gene on chromosome11 (NM_001260495.2); chr11:110233478delG c.305delC:p.A102fs. The mutation was predicted to be pathogenic based on ACMG guidelines. Our review of the public resources, local population database, and the literature revealed that there is no previous publication describing this mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023