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NM_022489.4(INF2):c.640C>T (p.Arg214Cys) AND Charcot-Marie-Tooth disease

Germline classification:
Uncertain significance (1 submission)
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:
RCV000790333.1

Allele description [Variation Report for NM_022489.4(INF2):c.640C>T (p.Arg214Cys)]

NM_022489.4(INF2):c.640C>T (p.Arg214Cys)

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.640C>T (p.Arg214Cys)
HGVS:
  • NC_000014.9:g.104703427C>T
  • NG_027684.1:g.18822C>T
  • NM_001031714.4:c.640C>T
  • NM_022489.4:c.640C>TMANE SELECT
  • NM_032714.3:c.640C>T
  • NP_001026884.3:p.Arg214Cys
  • NP_071934.3:p.Arg214Cys
  • NP_116103.1:p.Arg214Cys
  • NC_000014.8:g.105169764C>T
  • NM_022489.3:c.640C>T
Protein change:
R214C
Links:
dbSNP: rs912928648
NCBI 1000 Genomes Browser:
rs912928648
Molecular consequence:
  • NM_001031714.4:c.640C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022489.4:c.640C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032714.3:c.640C>T - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000929743Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

Caridi G, Lugani F, Dagnino M, Gigante M, Iolascon A, Falco M, Graziano C, Benetti E, Dugo M, Del Prete D, Granata A, Borracelli D, Moggia E, Quaglia M, Rinaldi R, Gesualdo L, Ghiggeri GM.

Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv80-6. doi: 10.1093/ndt/gfu071.

PubMed [citation]
PMID:
25165188

Details of each submission

From Inherited Neuropathy Consortium, SCV000929743.1

#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: Apr 20, 2025