NM_000533.5(PLP1):c.739del (p.Ala247fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 22, 2020
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:: RCV001008393.2

Allele description [Variation Report for NM_000533.5(PLP1):c.739del (p.Ala247fs)]

NM_000533.5(PLP1):c.739del (p.Ala247fs)

Genes:

RAB9B:RAB9B, member RAS oncogene family [Gene - OMIM - HGNC]
PLP1:proteolipid protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq22.2

Genomic location:

Preferred name:

NM_000533.5(PLP1):c.739del (p.Ala247fs)

HGVS:

NC_000023.11:g.103789375del
NG_008863.2:g.17865del
NG_016452.2:g.47912del
NM_000533.5:c.739delMANE SELECT
NM_001128834.3:c.739del
NM_001305004.1:c.574del
NM_199478.3:c.634del
NP_000524.3:p.Ala247fs
NP_001122306.1:p.Ala247fs
NP_001291933.1:p.Ala192fs
NP_955772.1:p.Ala212fs
NC_000023.10:g.103044304del
NM_000533.3:c.739del
NM_000533.3:c.739delG

Protein change:

A192fs

Links:

dbSNP: rs1602385699

NCBI 1000 Genomes Browser:

rs1602385699

Molecular consequence:

NM_000533.5:c.739del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001128834.3:c.739del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001305004.1:c.574del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_199478.3:c.634del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001168162	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jan 22, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001168162

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jan 22, 2020)

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, SCV001168162.2

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

Description

Frameshift variant predicted to result in protein truncation, as the last 31 amino acids are replaced with 11 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

#	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 23, 2022

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