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NM_000390.4(CHM):c.436_439del (p.Leu146fs) AND Retinal dystrophy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 4, 2019
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:
RCV001073370.2

Allele description [Variation Report for NM_000390.4(CHM):c.436_439del (p.Leu146fs)]

NM_000390.4(CHM):c.436_439del (p.Leu146fs)

Genes:
CHM:CHM Rab escort protein [Gene - OMIM - HGNC]
LOC129391306:MPRA-validated peak7401 silencer [Gene]
Variant type:
Deletion
Cytogenetic location:
Xq21.2
Genomic location:
Preferred name:
NM_000390.4(CHM):c.436_439del (p.Leu146fs)
HGVS:
  • NC_000023.11:g.85963929_85963932del
  • NG_009874.2:g.88632_88635del
  • NM_000390.4:c.436_439delMANE SELECT
  • NM_001320959.1:c.-9_-6del
  • NM_001362517.1:c.-9_-6del
  • NM_001362518.2:c.-9_-6del
  • NM_001362519.1:c.-9_-6del
  • NP_000381.1:p.Leu146fs
  • LRG_699t1:c.436_439del
  • LRG_699:g.88632_88635del
  • NC_000023.10:g.85218934_85218937del
  • NM_000390.2:c.436_439del
Protein change:
L146fs
Links:
dbSNP: rs1930435879
NCBI 1000 Genomes Browser:
rs1930435879
Molecular consequence:
  • NM_001320959.1:c.-9_-6del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001362517.1:c.-9_-6del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001362518.2:c.-9_-6del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001362519.1:c.-9_-6del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000390.4:c.436_439del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001238911Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Likely pathogenic
(Jan 4, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001238911.1

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

Last Updated: Jun 23, 2024