NM_130837.3(OPA1):c.2873_2876del AND Retinal dystrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 12, 2017
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:: RCV001073751.10

Allele description [Variation Report for NM_130837.3(OPA1):c.2873_2876del]

NM_130837.3(OPA1):c.2873_2876del

Gene:

OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q29

Genomic location:

Preferred name:

NM_130837.3(OPA1):c.2873_2876del

Other names:

p.Val903Glyfs*3

HGVS:

NC_000003.12:g.193667170_193667173del
NG_011605.1:g.79027_79030del
NM_130837.3:c.2873_2876delMANE SELECT
LRG_337t1:c.2708_2711del
LRG_337t2:c.2873_2876del
LRG_337:g.79027_79030del
NC_000003.11:g.193384957_193384960del
NC_000003.11:g.193384959_193384962del
NM_015560.2:c.2708_2711delTTAG
NM_015560.3:c.2708_2711delTTAG
NM_130837.2:c.2873_2876del
NM_130837.2:c.2873_2876delTTAG
NM_130837.3:c.2873-2_2874delMANE SELECT
NP_056375.2:p.Val903GlyfsTer3
p.(Val903Glyfs*3)
p.V903GfsX3

Links:

OMIM: 605290.0003; dbSNP: rs80356530

NCBI 1000 Genomes Browser:

rs80356530

Molecular consequence:

NM_130837.3:c.2873_2876del - splice acceptor variant - [Sequence Ontology: SO:0001574]

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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ZBTB21 zinc finger and BTB domain containing 21 [Homo sapiens]
ZBTB21 zinc finger and BTB domain containing 21 [Homo sapiens]
Gene ID:49854

Gene
49854[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001239311	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Pathogenic (Oct 12, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001239311

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Pathogenic
(Oct 12, 2017)

germline

clinical testing

Citation Link

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

Details of each submission

From Blueprint Genetics, SCV001239311.1

#	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

Last Updated: Oct 26, 2024

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