NM_021252.5(RAB18):c.260-7dup AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 21, 2017
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:: RCV000611985.1

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)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000729681	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Aug 21, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000729681

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Aug 21, 2017)

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 GeneDx, SCV000729681.1

#	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 considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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: Oct 13, 2024

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