NM_016247.4(IMPG2):c.3003_3004delinsAC (p.Tyr1001_Ser1002delinsTer) AND Retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 11, 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:: RCV001075800.1

Allele description [Variation Report for NM_016247.4(IMPG2):c.3003_3004delinsAC (p.Tyr1001_Ser1002delinsTer)]

NM_016247.4(IMPG2):c.3003_3004delinsAC (p.Tyr1001_Ser1002delinsTer)

Gene:

IMPG2:interphotoreceptor matrix proteoglycan 2 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

3q12.3

Genomic location:

Preferred name:

NM_016247.4(IMPG2):c.3003_3004delinsAC (p.Tyr1001_Ser1002delinsTer)

HGVS:

NC_000003.12:g.101242706_101242707delinsGT
NG_028284.1:g.82869_82870delinsAC
NM_016247.4:c.3003_3004delinsACMANE SELECT
NP_057331.2:p.Tyr1001_Ser1002delinsTer
NC_000003.11:g.100961550_100961551delinsGT
NM_016247.3:c.3003_3004delinsAC

Links:

dbSNP: rs1706423076

NCBI 1000 Genomes Browser:

rs1706423076

Molecular consequence:

NM_016247.4:c.3003_3004delinsAC - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001241435	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Likely pathogenic (Jul 11, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001241435

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Likely pathogenic
(Jul 11, 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, SCV001241435.1

#	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: Feb 28, 2024

ClinVar

Relating variation to medicine