NM_000390.4(CHM):c.525_526del (p.Glu177fs) AND Retinal dystrophy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001073739.4

Allele description [Variation Report for NM_000390.4(CHM):c.525_526del (p.Glu177fs)]

NM_000390.4(CHM):c.525_526del (p.Glu177fs)

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.525_526del (p.Glu177fs)

Other names:

NP_000381.1:p.(Glu177LysfsTer6)

HGVS:

NC_000023.11:g.85963841_85963842del
NG_009874.2:g.88721_88722del
NM_000390.4:c.525_526delMANE SELECT
NM_001320959.1:c.81_82del
NM_001362517.1:c.81_82del
NM_001362518.2:c.81_82del
NM_001362519.1:c.81_82del
NP_000381.1:p.Glu177fs
NP_001307888.1:p.Glu29fs
NP_001349446.1:p.Glu29fs
NP_001349447.1:p.Glu29fs
NP_001349448.1:p.Glu29fs
LRG_699t1:c.525_526del
LRG_699:g.88721_88722del
NC_000023.10:g.85218846_85218847del
NM_000390.2:c.525_526del
NM_000390.2:c.525_526delAG
NM_000390.4:c.525_526delAGMANE SELECT

Protein change:

E177fs

Links:

dbSNP: rs886041177

NCBI 1000 Genomes Browser:

rs886041177

Molecular consequence:

NM_000390.4:c.525_526del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001320959.1:c.81_82del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362517.1:c.81_82del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362518.2:c.81_82del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362519.1:c.81_82del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001239299	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Pathogenic (Sep 12, 2017)	germline	clinical testing	Citation Link,
SCV004707167	Dept Of Ophthalmology, Nagoya University	criteria provided, single submitter (Submitter's publication)	Pathogenic (Oct 1, 2023)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001239299

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Pathogenic
(Sep 12, 2017)

germline

clinical testing

Citation Link,

SCV004707167

Dept Of Ophthalmology, Nagoya University

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Oct 1, 2023)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing, research

Details of each submission

From Blueprint Genetics, SCV001239299.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Dept Of Ophthalmology, Nagoya University, SCV004707167.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 29, 2024

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