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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 24, 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:: RCV003324524.3

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:: 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004030377	Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 24, 2023)	germline	research	PubMed (2) [See all records that cite these PMIDs] 36909829, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004030377

Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 24, 2023)

germline

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.

Peter VG, Kaminska K, Santos C, Quinodoz M, Cancellieri F, Cisarova K, Pescini Gobert R, Rodrigues R, Custódio S, Paris LP, Sousa AB, Coutinho Santos L, Rivolta C.

PNAS Nexus. 2023 Mar;2(3):pgad043. doi: 10.1093/pnasnexus/pgad043.

PubMed [citation]

PMID:: 36909829
PMCID:: PMC10003751

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 Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, SCV004030377.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (2)

Description

Clinical significance based on ACMG v2.0

#	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		1	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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