NM_020366.4(RPGRIP1):c.2007del (p.Val670fs) AND Retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000225615.1

Allele description [Variation Report for NM_020366.4(RPGRIP1):c.2007del (p.Val670fs)]

NM_020366.4(RPGRIP1):c.2007del (p.Val670fs)

Gene:

RPGRIP1:RPGR interacting protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_020366.4(RPGRIP1):c.2007del (p.Val670fs)

HGVS:

NC_000014.9:g.21324862del
NG_008933.1:g.41886del
NM_001377523.1:c.689-2761del
NM_001377948.1:c.933del
NM_001377949.1:c.796+137del
NM_001377950.1:c.689-2761del
NM_001377951.1:c.191-2761del
NM_020366.4:c.2007delMANE SELECT
NP_001364877.1:p.Val312fs
NP_065099.3:p.Val670fs
NC_000014.8:g.21793021del
NM_020366.3:c.2007delT

Protein change:

V312fs

Links:

dbSNP: rs878853390

NCBI 1000 Genomes Browser:

rs878853390

Molecular consequence:

NM_001377948.1:c.933del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_020366.4:c.2007del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001377523.1:c.689-2761del - intron variant - [Sequence Ontology: SO:0001627]
NM_001377949.1:c.796+137del - intron variant - [Sequence Ontology: SO:0001627]
NM_001377950.1:c.689-2761del - intron variant - [Sequence Ontology: SO:0001627]
NM_001377951.1:c.191-2761del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000282614	Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	no assertion criteria provided	Likely pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000282614

Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

no assertion criteria provided

Likely pathogenic

germline

clinical testing

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 Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals, SCV000282614.1

#	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: Jun 23, 2024

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