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NM_001319074.4(RAX2):c.335dup (p.Ala113fs) AND Retinitis pigmentosa 95

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 25, 2022
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:
RCV002300624.1

Allele description [Variation Report for NM_001319074.4(RAX2):c.335dup (p.Ala113fs)]

NM_001319074.4(RAX2):c.335dup (p.Ala113fs)

Gene:
RAX2:retina and anterior neural fold homeobox 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_001319074.4(RAX2):c.335dup (p.Ala113fs)
HGVS:
  • NC_000019.10:g.3770846dup
  • NG_011565.1:g.6381dup
  • NM_001319074.4:c.335dupMANE SELECT
  • NM_032753.4:c.335dup
  • NP_001306003.2:p.Ala113fs
  • NP_116142.1:p.Ala113fs
  • LRG_1200t1:c.335dup
  • LRG_1200t2:c.335dup
  • LRG_1200:g.6381dup
  • LRG_1200p1:p.Ala113fs
  • LRG_1200p2:p.Ala113fs
  • NC_000019.9:g.3770838_3770839insG
  • NC_000019.9:g.3770844dup
Protein change:
A113fs
Links:
OMIM: 610362.0005; dbSNP: rs1230788366
NCBI 1000 Genomes Browser:
rs1230788366
Molecular consequence:
  • NM_001319074.4:c.335dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032753.4:c.335dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Retinitis pigmentosa 95
Identifiers:
MONDO: MONDO:0859308; MedGen: C5774244; OMIM: 620102

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002587010OMIM
no assertion criteria provided
Pathogenic
(Oct 25, 2022) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, et al.

Genet Med. 2019 Jun;21(6):1319-1329. doi: 10.1038/s41436-018-0345-5. Epub 2018 Oct 31. Erratum in: Genet Med. 2019 Apr;21(4):1028. doi: 10.1038/s41436-018-0392-y.

PubMed [citation]
PMID:
30377383
PMCID:
PMC6752271

Details of each submission

From OMIM, SCV002587010.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 37-year-old Belgian woman (patient I) and an unrelated 22-year-old Belgian man (patient II) with nonsyndromic retinitis pigmentosa (RP95; 620102), Van de Sompele et al. (2019) identified homozygosity for a 1-bp duplication (c.335dup, NM_032753) in exon 3 of the RAX2 gene, causing a frameshift predicted to result in a mutant protein extended by 107 amino acids (Ala113GlyfsTer178). Sanger sequencing confirmed the duplication and showed that the unaffected parents in both families were heterozygous for the variant, which was present in 1 heterozygous case in the gnomAD database (minor allele frequency, 0.00084%) but not found in the dbSNP, 1000 Genomes Project, or ExAC databases. Haplotype analysis in the 2 probands was consistent with a founder effect.

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

Last Updated: Sep 29, 2024