NM_000533.5(PLP1):c.418C>T (p.His140Tyr) AND Hereditary spastic paraplegia 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 1994
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:: RCV000011833.10

Allele description [Variation Report for NM_000533.5(PLP1):c.418C>T (p.His140Tyr)]

NM_000533.5(PLP1):c.418C>T (p.His140Tyr)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.2

Genomic location:

Preferred name:

NM_000533.5(PLP1):c.418C>T (p.His140Tyr)

Other names:

H139Y

HGVS:

NC_000023.11:g.103786691C>T
NG_008863.2:g.15181C>T
NG_016452.2:g.50592G>A
NM_000533.5:c.418C>TMANE SELECT
NM_001128834.3:c.418C>T
NM_001305004.1:c.253C>T
NM_199478.3:c.348+70C>T
NP_000524.3:p.His140Tyr
NP_001122306.1:p.His140Tyr
NP_001291933.1:p.His85Tyr
NC_000023.10:g.103041620C>T
P60201:p.His140Tyr

Protein change:

H140Y; HIS139TYR

Links:

UniProtKB: P60201#VAR_004551; OMIM: 300401.0012; dbSNP: rs132630287

NCBI 1000 Genomes Browser:

rs132630287

Molecular consequence:

NM_199478.3:c.348+70C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000533.5:c.418C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001128834.3:c.418C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001305004.1:c.253C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary spastic paraplegia 2 (SPG2)
Synonyms:: SPASTIC PARAPLEGIA 2, X-LINKED; Spastic paraplegia 2
Identifiers:: MONDO: MONDO:0010733; MedGen: C1839264; Orphanet: 99015; OMIM: 312920

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032066	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1994)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8320699, 8012387

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032066

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 1994)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

Bonneau D, Rozet JM, Bulteau C, Berthier M, Mettey R, Gil R, Munnich A, Le Merrer M.

J Med Genet. 1993 May;30(5):381-4.

PubMed [citation]

PMID:: 8320699
PMCID:: PMC1016372

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.

Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O.

Nat Genet. 1994 Mar;6(3):257-62.

PubMed [citation]

PMID:: 8012387

Details of each submission

From OMIM, SCV000032066.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

While narrowing the genetic interval containing the gene for X-linked spastic paraplegia-2 (312920) in a large pedigree previously reported by Bonneau et al. (1993), Saugier-Veber et al. (1994) found that PLP was the closest marker to the disease locus, implicating PLP as a possible candidate gene. They went on to find a his139-to-tyr mutation in exon 3B of the PLP gene in an affected male. The mutation resulted in a mutant form of PLP, but the other protein encoded by the PLP gene, DM20, was normal. The his139-to-tyr mutation segregated with the disease; maximum lod = 6.63 at theta = 0.00. Thus, SPG2 and PMD (312080) are allelic disorders.

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

Last Updated: Apr 23, 2022

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