NM_000304.4(PMP22):c.235T>C (p.Ser79Pro) 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:
RCV000790146.1

Allele description [Variation Report for NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)]

NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)

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.235T>C (p.Ser79Pro)
HGVS:
  • NC_000017.11:g.15239555A>G
  • NG_007949.1:g.30773T>C
  • NM_000304.4:c.235T>CMANE SELECT
  • NM_001281455.2:c.235T>C
  • NM_001281456.2:c.235T>C
  • NM_001330143.2:c.235T>C
  • NM_153321.3:c.235T>C
  • NM_153322.3:c.235T>C
  • NP_000295.1:p.Ser79Pro
  • NP_001268384.1:p.Ser79Pro
  • NP_001268385.1:p.Ser79Pro
  • NP_001317072.1:p.Ser79Pro
  • NP_696996.1:p.Ser79Pro
  • NP_696997.1:p.Ser79Pro
  • LRG_263:g.30773T>C
  • NC_000017.10:g.15142872A>G
  • NM_000304.3:c.235T>C
  • NR_104017.2:n.330T>C
  • NR_104018.2:n.230T>C
Protein change:
S79P
Links:
dbSNP: rs863225027
NCBI 1000 Genomes Browser:
rs863225027
Molecular consequence:
  • NM_000304.4:c.235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330143.2:c.235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104017.2:n.330T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.230T>C - 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
SCV000929537Inherited 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

Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.

Bort S, Sevilla T, García-Planells J, Blesa D, Paricio N, Vílchez JJ, Prieto F, Palau F.

Hum Mutat. 1998;Suppl 1:S95-8. No abstract available.

PubMed [citation]
PMID:
9452053

Details of each submission

From Inherited Neuropathy Consortium, SCV000929537.1

#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: Nov 27, 2021

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