NM_001370298.3(FGD4):c.1248-16dup AND Charcot-Marie-Tooth disease

Clinical significance:Likely benign

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001174095.1

Allele description [Variation Report for NM_001370298.3(FGD4):c.1248-16dup]

NM_001370298.3(FGD4):c.1248-16dup

Gene:
FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_001370298.3(FGD4):c.1248-16dup
HGVS:
  • NC_000012.12:g.32602145dup
  • NG_008626.2:g.207617dup
  • NM_001304481.1:c.1092-16dup
  • NM_001304483.2:c.93-16dup
  • NM_001304484.2:c.-215-16dup
  • NM_001330373.2:c.558-16dup
  • NM_001330374.2:c.558-16dup
  • NM_001370297.1:c.285-16dup
  • NM_001370298.3:c.1248-16dupMANE SELECT
  • NM_001384126.1:c.1248-16dup
  • NM_001384127.1:c.837-16dup
  • NM_001384128.1:c.837-16dup
  • NM_001384130.1:c.558-16dup
  • NM_001385118.1:c.837-16dup
  • NM_139241.3:c.837-16dup
  • LRG_240t1:c.837-16dup
  • LRG_240t2:c.1092-16dup
  • LRG_240:g.207617dup
  • NC_000012.11:g.32755079dup
  • NM_139241.2:c.837-16dupT
Links:
dbSNP: rs368420700
NCBI 1000 Genomes Browser:
rs368420700
Molecular consequence:
  • NM_001304481.1:c.1092-16dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304483.2:c.93-16dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304484.2:c.-215-16dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330373.2:c.558-16dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330374.2:c.558-16dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370297.1:c.285-16dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370298.3:c.1248-16dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001384126.1:c.1248-16dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001384127.1:c.837-16dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001384128.1:c.837-16dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001384130.1:c.558-16dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385118.1:c.837-16dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_139241.3:c.837-16dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001337216Molecular Genetics Laboratory,London Health Sciences Centrecriteria provided, single submitter
Likely benigngermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Genetics Laboratory,London Health Sciences Centre, SCV001337216.1

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

Last Updated: Nov 20, 2021

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