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NM_000390.4(CHM):c.83C>G (p.Ser28Ter) AND Choroideremia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 8, 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:
RCV001376425.1

Allele description [Variation Report for NM_000390.4(CHM):c.83C>G (p.Ser28Ter)]

NM_000390.4(CHM):c.83C>G (p.Ser28Ter)

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.83C>G (p.Ser28Ter)
HGVS:
  • NC_000023.11:g.86027524G>C
  • NG_009874.2:g.25039C>G
  • NM_000390.4:c.83C>GMANE SELECT
  • NM_001145414.4:c.83C>G
  • NM_001320959.1:c.-362C>G
  • NM_001362517.1:c.-362C>G
  • NM_001362518.2:c.-358C>G
  • NM_001362519.1:c.-358C>G
  • NP_000381.1:p.Ser28Ter
  • NP_001138886.1:p.Ser28Ter
  • LRG_699t1:c.83C>G
  • LRG_699:g.25039C>G
  • NC_000023.10:g.85282528G>C
  • NM_000390.2:c.83C>G
Protein change:
S28*
Links:
dbSNP: rs2147791162
NCBI 1000 Genomes Browser:
rs2147791162
Molecular consequence:
  • NM_001320959.1:c.-362C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001362517.1:c.-362C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001362518.2:c.-358C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001362519.1:c.-358C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000390.4:c.83C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001145414.4:c.83C>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001573557Ocular Genomics Institute, Massachusetts Eye and Ear
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 8, 2021) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573557.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

The CHM c.83C>G variant was identified in an individual with retinitis pigmentosa with a presumed X-linked inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.

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

Last Updated: Dec 24, 2023