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NM_002906.4(RDX):c.1501T>C (p.Ser501Pro) AND Autosomal recessive nonsyndromic hearing loss 24

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 15, 2022
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:
RCV003120237.3

Allele description [Variation Report for NM_002906.4(RDX):c.1501T>C (p.Ser501Pro)]

NM_002906.4(RDX):c.1501T>C (p.Ser501Pro)

Gene:
RDX:radixin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_002906.4(RDX):c.1501T>C (p.Ser501Pro)
HGVS:
  • NC_000011.10:g.110233323A>G
  • NG_023044.2:g.68390T>C
  • NG_023044.3:g.68291T>C
  • NM_001260492.2:c.1501T>C
  • NM_001260493.2:c.1501T>C
  • NM_001260494.2:c.1093T>C
  • NM_001260495.2:c.460T>C
  • NM_001260496.2:c.405-1319T>C
  • NM_002906.4:c.1501T>CMANE SELECT
  • NP_001247421.1:p.Ser501Pro
  • NP_001247422.1:p.Ser501Pro
  • NP_001247423.1:p.Ser365Pro
  • NP_001247424.1:p.Ser154Pro
  • NP_002897.1:p.Ser501Pro
  • NC_000011.9:g.110104048A>G
Protein change:
S154P
Molecular consequence:
  • NM_001260496.2:c.405-1319T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001260492.2:c.1501T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001260493.2:c.1501T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001260494.2:c.1093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001260495.2:c.460T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002906.4:c.1501T>C - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003800178ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)
Uncertain significance
(Jul 15, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV003800178.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The RDX c.1501T>C; p.Ser501Pro variant (rs889509891), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The serine at codon 501 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.175). However, given the lack of clinical and functional data, the significance of the p.Ser501Pro variant is uncertain at this time.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 4, 2023