NM_022489.4(INF2):c.170T>C (p.Leu57Pro) AND Charcot-Marie-Tooth 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:
RCV000789982.1

Allele description [Variation Report for NM_022489.4(INF2):c.170T>C (p.Leu57Pro)]

NM_022489.4(INF2):c.170T>C (p.Leu57Pro)

Gene:
INF2:inverted formin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.33
Genomic location:
Preferred name:
NM_022489.4(INF2):c.170T>C (p.Leu57Pro)
HGVS:
  • NC_000014.9:g.104701535T>C
  • NG_027684.1:g.16930T>C
  • NM_001031714.4:c.170T>C
  • NM_022489.4:c.170T>CMANE SELECT
  • NM_032714.3:c.170T>C
  • NP_001026884.3:p.Leu57Pro
  • NP_071934.3:p.Leu57Pro
  • NP_116103.1:p.Leu57Pro
  • NC_000014.8:g.105167872T>C
  • NM_022489.3:c.170T>C
Protein change:
L57P
Links:
dbSNP: rs1595163736
NCBI 1000 Genomes Browser:
rs1595163736
Molecular consequence:
  • NM_001031714.4:c.170T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022489.4:c.170T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032714.3:c.170T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000929371Inherited 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

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.

Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, TĂȘte MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, et al.

N Engl J Med. 2011 Dec 22;365(25):2377-88. doi: 10.1056/NEJMoa1109122.

PubMed [citation]
PMID:
22187985

Details of each submission

From Inherited Neuropathy Consortium, SCV000929371.1

#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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