NM_000304.4(PMP22):c.449G>A (p.Gly150Asp) AND Dejerine-Sottas disease

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000790159.1

Allele description [Variation Report for NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)]

NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)

Gene:
PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)
HGVS:
  • NC_000017.11:g.15230951C>T
  • NG_007949.1:g.39377G>A
  • NM_000304.4:c.449G>AMANE SELECT
  • NM_001281455.2:c.449G>A
  • NM_001281456.2:c.449G>A
  • NM_153321.3:c.449G>A
  • NM_153322.3:c.449G>A
  • NP_000295.1:p.Gly150Asp
  • NP_001268384.1:p.Gly150Asp
  • NP_001268385.1:p.Gly150Asp
  • NP_696996.1:p.Gly150Asp
  • NP_696997.1:p.Gly150Asp
  • LRG_263t1:c.449G>A
  • LRG_263:g.39377G>A
  • NC_000017.10:g.15134268C>T
  • NM_000304.2:c.449G>A
  • NM_000304.3:c.449G>A
  • NR_104017.2:n.544G>A
  • NR_104018.2:n.444G>A
  • Q01453:p.Gly150Asp
Protein change:
G150D
Links:
UniProtKB: Q01453#VAR_006379; dbSNP: rs879253954
NCBI 1000 Genomes Browser:
rs879253954
Molecular consequence:
  • NM_000304.4:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104017.2:n.544G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.444G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Dejerine-Sottas disease
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 3; HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III; HMSN Type III; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007790; MedGen: C0011195; Orphanet: 64748; OMIM: 145900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000929550Inherited Neuropathy Consortiumno assertion criteria providedUncertain significancegermlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.

Ionasescu VV, Searby CC, Ionasescu R, Chatkupt S, Patel N, Koenigsberger R.

Muscle Nerve. 1997 Jan;20(1):97-9.

PubMed [citation]
PMID:
8995589

Details of each submission

From Inherited Neuropathy Consortium, SCV000929550.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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