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NM_000390.4(CHM):c.1255A>G (p.Ile419Val) AND Choroideremia

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 5, 2020
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:
RCV001830930.1

Allele description [Variation Report for NM_000390.4(CHM):c.1255A>G (p.Ile419Val)]

NM_000390.4(CHM):c.1255A>G (p.Ile419Val)

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.1255A>G (p.Ile419Val)
HGVS:
  • NC_000023.11:g.85901178T>C
  • NG_009874.2:g.151385A>G
  • NM_000390.4:c.1255A>GMANE SELECT
  • NM_001320959.1:c.811A>G
  • NM_001362517.1:c.811A>G
  • NM_001362518.2:c.811A>G
  • NM_001362519.1:c.811A>G
  • NP_000381.1:p.Ile419Val
  • NP_001307888.1:p.Ile271Val
  • NP_001349446.1:p.Ile271Val
  • NP_001349447.1:p.Ile271Val
  • NP_001349448.1:p.Ile271Val
  • LRG_699t1:c.1255A>G
  • LRG_699:g.151385A>G
  • NC_000023.10:g.85156183T>C
  • NM_000390.2:c.1255A>G
Protein change:
I271V
Links:
dbSNP: rs140093046
NCBI 1000 Genomes Browser:
rs140093046
Molecular consequence:
  • NM_000390.4:c.1255A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320959.1:c.811A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362517.1:c.811A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362518.2:c.811A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362519.1:c.811A>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
SCV002089130Natera, Inc.
no assertion criteria provided
Likely benign
(Mar 5, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002089130.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024