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NM_002906.4(RDX):c.682_685del (p.Tyr228fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 6, 2017
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:
RCV001382842.4

Allele description

NM_002906.4(RDX):c.682_685del (p.Tyr228fs)

Gene:
RDX:radixin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_002906.4(RDX):c.682_685del (p.Tyr228fs)
HGVS:
  • NC_000011.10:g.110257780_110257783del
  • NG_023044.2:g.43930_43933del
  • NM_001260492.2:c.682_685del
  • NM_001260493.2:c.682_685del
  • NM_001260494.2:c.274_277del
  • NM_001260495.2:c.-82-9950_-82-9947del
  • NM_001260496.2:c.404+374_404+377del
  • NM_002906.4:c.682_685delMANE SELECT
  • NP_001247421.1:p.Tyr228fs
  • NP_001247422.1:p.Tyr228fs
  • NP_001247423.1:p.Tyr92fs
  • NP_002897.1:p.Tyr228fs
  • NC_000011.9:g.110128505_110128508del
  • NC_000011.9:g.110128505_110128508delCATA
Protein change:
Y228fs
Links:
dbSNP: rs2134363728
NCBI 1000 Genomes Browser:
rs2134363728
Molecular consequence:
  • NM_001260492.2:c.682_685del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001260493.2:c.682_685del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001260494.2:c.274_277del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002906.4:c.682_685del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001260495.2:c.-82-9950_-82-9947del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001260496.2:c.404+374_404+377del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001581788Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Sep 6, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Radixin deficiency causes conjugated hyperbilirubinemia with loss of Mrp2 from bile canalicular membranes.

Kikuchi S, Hata M, Fukumoto K, Yamane Y, Matsui T, Tamura A, Yonemura S, Yamagishi H, Keppler D, Tsukita S, Tsukita S.

Nat Genet. 2002 Jul;31(3):320-5. Epub 2002 Jun 17.

PubMed [citation]
PMID:
12068294

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.

Khan SY, Ahmed ZM, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB, Riazuddin S.

Hum Mutat. 2007 May;28(5):417-23.

PubMed [citation]
PMID:
17226784
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001581788.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RDX are known to be pathogenic (PMID: 12068294, 17226784). This variant has not been reported in the literature in individuals with RDX-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr228Serfs*6) in the RDX gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Feb 14, 2024