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NM_000390.4(CHM):c.1511-6del AND Choroideremia

Germline classification:
Benign (2 submissions)
Last evaluated:
Oct 26, 2023
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:
RCV001001637.15

Allele description [Variation Report for NM_000390.4(CHM):c.1511-6del]

NM_000390.4(CHM):c.1511-6del

Gene:
CHM:CHM Rab escort protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq21.2
Genomic location:
Preferred name:
NM_000390.4(CHM):c.1511-6del
HGVS:
  • NC_000023.10:g.85134074del
  • NC_000023.11:g.85879078del
  • NG_009874.2:g.173494del
  • NM_000390.4:c.1511-6delMANE SELECT
  • NM_001320959.1:c.1067-6del
  • NM_001362517.1:c.1067-6del
  • NM_001362518.2:c.1067-6del
  • NM_001362519.1:c.1067-6del
  • LRG_699:g.173494del
  • NC_000023.10:g.85134074del
  • NC_000023.10:g.85134083del
  • NC_000023.10:g.85134083del
  • NC_000023.10:g.85134083delA
Links:
dbSNP: rs775072539
NCBI 1000 Genomes Browser:
rs775072539
Molecular consequence:
  • NM_000390.4:c.1511-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001320959.1:c.1067-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362517.1:c.1067-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362518.2:c.1067-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362519.1:c.1067-6del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001159141ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Benign
(Oct 26, 2023) 		germlineclinical testing

Citation Link,

SCV002089128Natera, Inc.
no assertion criteria provided
Benign
(Nov 11, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001159141.6

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

From Natera, Inc., SCV002089128.1

#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