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NM_000390.4(CHM):c.1520A>G (p.His507Arg) AND Choroideremia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2011
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:
RCV000033030.3

Allele description [Variation Report for NM_000390.4(CHM):c.1520A>G (p.His507Arg)]

NM_000390.4(CHM):c.1520A>G (p.His507Arg)

Gene:
CHM:CHM Rab escort protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.2
Genomic location:
Preferred name:
NM_000390.4(CHM):c.1520A>G (p.His507Arg)
HGVS:
  • NC_000023.11:g.85879054T>C
  • NG_009874.2:g.173509A>G
  • NM_000390.4:c.1520A>GMANE SELECT
  • NM_001320959.1:c.1076A>G
  • NM_001362517.1:c.1076A>G
  • NM_001362518.2:c.1076A>G
  • NM_001362519.1:c.1076A>G
  • NP_000381.1:p.His507Arg
  • NP_001307888.1:p.His359Arg
  • NP_001349446.1:p.His359Arg
  • NP_001349447.1:p.His359Arg
  • NP_001349448.1:p.His359Arg
  • LRG_699:g.173509A>G
  • NC_000023.10:g.85134059T>C
  • P24386:p.His507Arg
Protein change:
H359R; HIS507ARG
Links:
UniProtKB: P24386#VAR_066847; OMIM: 300390.0011; dbSNP: rs397514603
NCBI 1000 Genomes Browser:
rs397514603
Molecular consequence:
  • NM_000390.4:c.1520A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320959.1:c.1076A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362517.1:c.1076A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362518.2:c.1076A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362519.1:c.1076A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Choroideremia (CHM)
Synonyms:
Progressive tapetochoroidal dystrophy
Identifiers:
MONDO: MONDO:0010557; MedGen: C0008525; Orphanet: 180; OMIM: 303100; Human Phenotype Ontology: HP:0001139

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000056810OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2011) 		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

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.

Esposito G, De Falco F, Tinto N, Testa F, Vitagliano L, Tandurella IC, Iannone L, Rossi S, Rinaldi E, Simonelli F, Zagari A, Salvatore F.

Hum Mutat. 2011 Dec;32(12):1460-9. doi: 10.1002/humu.21591. Epub 2011 Oct 11.

PubMed [citation]
PMID:
21905166

Details of each submission

From OMIM, SCV000056810.2

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

Description

In a 21-year-old Italian man with choroideremia (CHM; 303100), Esposito et al. (2011) identified a 1520A-G transition in exon 13 of the CHM gene, resulting in a his507-to-arg (H507R) substitution. The mutation segregated fully with disease in the family and was not found in 200 control alleles. Western blot of transiently transfected HEK293 cells showed that wildtype protein was expressed at higher levels than the mutant. Immunoprecipitation studies demonstrated that the mutant was associated with a total loss of REP1 essential activity because it was unable to interact with RGGTase (see RABGGTB, 179080). The patient had visual acuity of 20/30 bilaterally and concentric loss of visual fields with perimacular scotomata; funduscopy revealed widespread chorioretinal atrophy sparing the macula and optic nerve, and scotopic b-waves were extinguished on electroretinography.

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

Last Updated: Apr 23, 2022