NM_021252.5(RAB18):c.260-7dup AND RAB18-related disorder

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 26, 2019
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:: RCV003977865.2

Allele description [Variation Report for NM_021252.5(RAB18):c.260-7dup]

NM_021252.5(RAB18):c.260-7dup

Gene:

RAB18:RAB18, member RAS oncogene family [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

10p12.1

Genomic location:

Preferred name:

NM_021252.5(RAB18):c.260-7dup

HGVS:

NC_000010.11:g.27533728dup
NG_032035.1:g.34555dup
NM_001256410.2:c.347-7dup
NM_001256411.2:c.260-7dup
NM_001256412.2:c.187-200dup
NM_021252.5:c.260-7dupMANE SELECT
NC_000010.10:g.27822656_27822657insA
NC_000010.10:g.27822657dup
NM_001256410.1:c.347-7dupA
NM_021252.4:c.260-7dupA

Links:

dbSNP: rs142609338

NCBI 1000 Genomes Browser:

rs142609338

Molecular consequence:

NM_001256410.2:c.347-7dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001256411.2:c.260-7dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001256412.2:c.187-200dup - intron variant - [Sequence Ontology: SO:0001627]
NM_021252.5:c.260-7dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: RAB18-related disorder
Synonyms:: RAB18-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004797523	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Benign (Jul 26, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004797523

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Benign
(Jul 26, 2019)

germline

clinical testing

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004797523.2

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

Description

This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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

Last Updated: Oct 13, 2024

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