NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) AND Retinal dystrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 9, 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:: RCV001073669.3

Allele description [Variation Report for NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)]

NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)

Genes:

PHF3:PHD finger protein 3 [Gene - OMIM - HGNC]
EYS:eyes shut homolog [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q12

Genomic location:

Preferred name:

NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)

HGVS:

NC_000006.12:g.63721377_63721384del
NG_023443.2:g.1990843_1990850del
NM_001142800.2:c.8648_8655delMANE SELECT
NM_001290259.2:c.*7669_*7676del
NM_001292009.2:c.8711_8718del
NM_001370348.2:c.*7669_*7676delMANE SELECT
NM_001370349.2:c.*7669_*7676del
NM_001370350.2:c.*7669_*7676del
NM_015153.4:c.*7669_*7676del
NP_001136272.1:p.Thr2883fs
NP_001278938.1:p.Thr2904fs
FM209056.1:c.8711_8718delCATGCAGA
NC_000006.11:g.64431272_64431279del
NC_000006.11:g.64431273_64431280del
NM_001142800.1:c.8648_8655del8
NM_001142800.1:c.8648_8655delCATGCAGA

Protein change:

T2883fs

Links:

dbSNP: rs528919874

NCBI 1000 Genomes Browser:

rs528919874

Molecular consequence:

NM_001290259.2:c.*7669_*7676del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370348.2:c.*7669_*7676del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370349.2:c.*7669_*7676del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370350.2:c.*7669_*7676del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_015153.4:c.*7669_*7676del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001142800.2:c.8648_8655del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001292009.2:c.8711_8718del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: 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
SCV001239221	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Pathogenic (Aug 9, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001239221

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Pathogenic
(Aug 9, 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, SCV001239221.1

#	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: May 7, 2024

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