NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) AND Retinal dystrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 26, 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:: RCV001073643.4

Allele description [Variation Report for NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)]

NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)

Gene:

EYS:eyes shut homolog [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q12

Genomic location:

Preferred name:

NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)

HGVS:

NC_000006.12:g.64591514_64591520del
NG_023443.2:g.1120709_1120715del
NM_001142800.2:c.4350_4356delMANE SELECT
NM_001292009.2:c.4350_4356del
NP_001136272.1:p.Ile1451fs
NP_001278938.1:p.Ile1451fs
NC_000006.11:g.65301404_65301410del
NC_000006.11:g.65301407_65301413del
NM_001142800.1:c.4350_4356delTATAGCT
NM_001142800.2:c.4350_4356delTATAGCTMANE SELECT
NM_001292009.1:c.4350_4356delTATAGCT

Protein change:

I1451fs

Links:

dbSNP: rs761238771

NCBI 1000 Genomes Browser:

rs761238771

Molecular consequence:

NM_001142800.2:c.4350_4356del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001292009.2:c.4350_4356del - 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
SCV001239194	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Pathogenic (Jul 26, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001239194

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Pathogenic
(Jul 26, 2019)

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, SCV001239194.1

#	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: Nov 3, 2024

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