NM_001142800.2(EYS):c.8687del (p.Thr2896fs) AND Retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 1, 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:: RCV003891014.1

Allele description [Variation Report for NM_001142800.2(EYS):c.8687del (p.Thr2896fs)]

NM_001142800.2(EYS):c.8687del (p.Thr2896fs)

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.8687del (p.Thr2896fs)

HGVS:

NC_000006.12:g.63721344del
NG_023443.2:g.1990882del
NG_034034.2:g.90544del
NM_001142800.2:c.8687delMANE SELECT
NM_001290259.2:c.*7636del
NM_001292009.2:c.8750del
NM_001370348.2:c.*7636delMANE SELECT
NM_001370349.2:c.*7636del
NM_001370350.2:c.*7636del
NM_015153.4:c.*7636del
NP_001136272.1:p.Thr2896fs
NP_001278938.1:p.Thr2917fs
NC_000006.11:g.64431240del
NM_001142800.2:c.8687delCMANE SELECT

Protein change:

T2896fs

Molecular consequence:

NM_001290259.2:c.*7636del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370348.2:c.*7636del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370349.2:c.*7636del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370350.2:c.*7636del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_015153.4:c.*7636del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001142800.2:c.8687del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001292009.2:c.8750del - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004707395	Dept Of Ophthalmology, Nagoya University	criteria provided, single submitter (Submitter's publication)	Likely pathogenic (Oct 1, 2023)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004707395

Dept Of Ophthalmology, Nagoya University

criteria provided, single submitter

(Submitter's publication)

Likely 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	research

Details of each submission

From Dept Of Ophthalmology, Nagoya University, SCV004707395.1

#	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: Sep 1, 2024

ClinVar

Relating variation to medicine