NM_000304.4(PMP22):c.433del (p.Leu145fs) AND Charcot-Marie-Tooth disease

Germline classification:: Pathogenic (1 submission)
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:: RCV001173912.1

Allele description [Variation Report for NM_000304.4(PMP22):c.433del (p.Leu145fs)]

NM_000304.4(PMP22):c.433del (p.Leu145fs)

Gene:

PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p12

Genomic location:

Preferred name:

NM_000304.4(PMP22):c.433del (p.Leu145fs)

HGVS:

NC_000017.11:g.15230971del
NG_007949.1:g.39361del
NM_000304.4:c.433delMANE SELECT
NM_001281455.2:c.433del
NM_001281456.2:c.433del
NM_153321.3:c.433del
NM_153322.3:c.433del
NP_000295.1:p.Leu145fs
NP_001268384.1:p.Leu145fs
NP_001268385.1:p.Leu145fs
NP_696996.1:p.Leu145fs
NP_696997.1:p.Leu145fs
LRG_263t1:c.433del
LRG_263:g.39361del
NC_000017.10:g.15134288del
NM_000304.2:c.433del
NM_000304.3:c.433delC
NR_104017.2:n.528del
NR_104018.2:n.428del

Protein change:

L145fs

Links:

dbSNP: rs1567698872

NCBI 1000 Genomes Browser:

rs1567698872

Molecular consequence:

NM_000304.4:c.433del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281455.2:c.433del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281456.2:c.433del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_153321.3:c.433del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_153322.3:c.433del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_104017.2:n.528del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104018.2:n.428del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Charcot-Marie-Tooth disease
Synonyms:: Charcot-Marie-Tooth Neuropathy
Identifiers:: MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001337029	Molecular Genetics Laboratory, London Health Sciences Centre	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001337029

Molecular Genetics Laboratory, London Health Sciences Centre

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Molecular Genetics Laboratory, London Health Sciences Centre, SCV001337029.1

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

#	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: May 7, 2024

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