NM_000304.4(PMP22):c.214T>C (p.Ser72Pro) 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:
RCV000789526.1

Allele description [Variation Report for NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)]

NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)

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.214T>C (p.Ser72Pro)
HGVS:
  • NC_000017.11:g.15239576A>G
  • NG_007949.1:g.30752T>C
  • NM_000304.4:c.214T>CMANE SELECT
  • NM_001281455.2:c.214T>C
  • NM_001281456.2:c.214T>C
  • NM_001330143.2:c.214T>C
  • NM_153321.3:c.214T>C
  • NM_153322.3:c.214T>C
  • NP_000295.1:p.Ser72Pro
  • NP_001268384.1:p.Ser72Pro
  • NP_001268385.1:p.Ser72Pro
  • NP_001317072.1:p.Ser72Pro
  • NP_696996.1:p.Ser72Pro
  • NP_696997.1:p.Ser72Pro
  • LRG_263:g.30752T>C
  • NC_000017.10:g.15142893A>G
  • NM_000304.3:c.214T>C
  • NR_104017.2:n.309T>C
  • NR_104018.2:n.209T>C
Protein change:
S72P
Links:
dbSNP: rs1597608086
NCBI 1000 Genomes Browser:
rs1597608086
Molecular consequence:
  • NM_000304.4:c.214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330143.2:c.214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.214T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104017.2:n.309T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.209T>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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000928882Inherited 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

T>C transition in codon 72 (TCG-->CCG), S72P, a putative hotspot in PMP22.

Ekici AB, Park O, Korinthenberg R, Grehl H, Rautenstrauss B.

Hum Mutat. 2001;17(1):81. No abstract available.

PubMed [citation]
PMID:
11139264

Details of each submission

From Inherited Neuropathy Consortium, SCV000928882.1

#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 24, 2021

Support Center