NM_000304.4(PMP22):c.434del (p.Leu145fs) AND Roussy-Lévy syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2016
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:: RCV001198269.3

Allele description [Variation Report for NM_000304.4(PMP22):c.434del (p.Leu145fs)]

NM_000304.4(PMP22):c.434del (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.434del (p.Leu145fs)

HGVS:

NC_000017.11:g.15230966del
NG_007949.1:g.39362del
NM_000304.4:c.434delMANE SELECT
NM_001281455.2:c.434del
NM_001281456.2:c.434del
NM_153321.3:c.434del
NM_153322.3:c.434del
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.434del
LRG_263:g.39362del
NC_000017.10:g.15134283del
NM_000304.2:c.434delT
NM_000304.3:c.434del
NM_000304.3:c.434delT
NM_000304.4:c.434delTMANE SELECT
NR_104017.2:n.529del
NR_104018.2:n.429del

Protein change:

L145fs

Links:

dbSNP: rs863225029

NCBI 1000 Genomes Browser:

rs863225029

Molecular consequence:

NM_000304.4:c.434del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281455.2:c.434del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281456.2:c.434del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_153321.3:c.434del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_153322.3:c.434del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_104017.2:n.529del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104018.2:n.429del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Roussy-Lévy syndrome
Synonyms:: Roussy-Levy Syndrome; Roussy Levy hereditary areflexic dystasia; Roussy-Levy disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008392; MedGen: C0205713; Orphanet: 3115; OMIM: 180800

Recent activity

Clear Turn Off Turn On

TARA_Y100001970; TARA_20110728T1718Z_122_Combined-EVENTS_CAST_MB_D_(115 m)_GIRUS...
TARA_Y100001970; TARA_20110728T1718Z_122_Combined-EVENTS_CAST_MB_D_(115 m)_GIRUS_NUC-dry_W0.22-0.45_TARA_Y100001970

biosample
Mus musculus EMI domain containing 1 (Emid1), transcript variant 8, non-coding R...
Mus musculus EMI domain containing 1 (Emid1), transcript variant 8, non-coding RNA
gi|1690553955|ref|NR_152138.2|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001369148	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2016)	unknown	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

SCV001369148

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2016)

unknown

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	unknown	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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001369148.2

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

Description

This variant was classified as: Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine