NM_001142800.2(EYS):c.9383_9387del (p.Lys3128fs) AND Retinitis pigmentosa 25

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 14, 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:: RCV001833682.3

Allele description [Variation Report for NM_001142800.2(EYS):c.9383_9387del (p.Lys3128fs)]

NM_001142800.2(EYS):c.9383_9387del (p.Lys3128fs)

Genes:

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

Variant type:

Microsatellite

Cytogenetic location:

6q12

Genomic location:

Preferred name:

NM_001142800.2(EYS):c.9383_9387del (p.Lys3128fs)

HGVS:

NC_000006.12:g.63720644TAATT[1]
NC_000006.12:g.63720644_63720648TAATT[1]
NG_023443.2:g.1991573AATTA[1]
NG_034034.2:g.89844TAATT[1]
NM_001142800.2:c.9383_9387delMANE SELECT
NM_001290259.2:c.*6936TAATT[1]
NM_001292009.2:c.9446_9450del
NM_001370348.2:c.*6936TAATT[1]MANE SELECT
NM_001370349.2:c.*6936TAATT[1]
NM_001370350.2:c.*6936TAATT[1]
NM_015153.4:c.*6936TAATT[1]
NP_001136272.1:p.Lys3128fs
NP_001278938.1:p.Lys3149fs
NC_000006.11:g.64430540TAATT[1]
NC_000006.11:g.64430540_64430544del
NM_001142800.1:c.9383_9387del

Protein change:

K3128fs

Links:

dbSNP: rs1409801782

NCBI 1000 Genomes Browser:

rs1409801782

Molecular consequence:

NM_001290259.2:c.*6936TAATT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370348.2:c.*6936TAATT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370349.2:c.*6936TAATT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001370350.2:c.*6936TAATT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_015153.4:c.*6936TAATT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001142800.2:c.9383_9387del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001292009.2:c.9446_9450del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Retinitis pigmentosa 25 (RP25)
Synonyms:: RP 25
Identifiers:: MONDO: MONDO:0011272; MedGen: C1864446; Orphanet: 791; OMIM: 602772

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
SCV002083447	Natera, Inc.	no assertion criteria provided	Pathogenic (Mar 1, 2021)	germline	clinical testing
SCV004192911	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 14, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002083447

Natera, Inc.

no assertion criteria provided

Pathogenic
(Mar 1, 2021)

germline

clinical testing

SCV004192911

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 14, 2023)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Natera, Inc., SCV002083447.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004192911.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine