NM_001017979.3(RAB28):c.502del (p.Leu168fs) AND Retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 8, 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:: RCV001074875.1

Allele description [Variation Report for NM_001017979.3(RAB28):c.502del (p.Leu168fs)]

NM_001017979.3(RAB28):c.502del (p.Leu168fs)

Gene:

RAB28:RAB28, member RAS oncogene family [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4p15.33

Genomic location:

Preferred name:

NM_001017979.3(RAB28):c.502del (p.Leu168fs)

HGVS:

NC_000004.12:g.13376617del
NG_033891.1:g.112750del
NM_001017979.3:c.502delMANE SELECT
NM_001159601.2:c.502del
NM_004249.4:c.502del
NP_001017979.1:p.Leu168fs
NP_001153073.1:p.Leu168fs
NP_004240.2:p.Leu168fs
NC_000004.11:g.13378241del
NM_004249.3:c.502del

Protein change:

L168fs

Links:

dbSNP: rs1328767121

NCBI 1000 Genomes Browser:

rs1328767121

Molecular consequence:

NM_001017979.3:c.502del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001159601.2:c.502del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004249.4:c.502del - 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
SCV001240479	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Likely pathogenic (Aug 8, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001240479

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Likely pathogenic
(Aug 8, 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, SCV001240479.1

#	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: Apr 1, 2023

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