NM_001370298.3(FGD4):c.*2928_*2931del AND Charcot-Marie-Tooth disease type 4

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000390748.2

Allele description [Variation Report for NM_001370298.3(FGD4):c.*2928_*2931del]

NM_001370298.3(FGD4):c.*2928_*2931del

Gene:
FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_001370298.3(FGD4):c.*2928_*2931del
HGVS:
  • NC_000012.12:g.32643461_32643464del
  • NG_008626.2:g.248933_248936del
  • NM_001304481.1:c.*2928_*2931del
  • NM_001304484.2:c.*2928_*2931del
  • NM_001330373.2:c.*2928_*2931del
  • NM_001330374.2:c.*2928_*2931del
  • NM_001370297.1:c.*2928_*2931del
  • NM_001370298.3:c.*2928_*2931delMANE SELECT
  • NM_001384126.1:c.2633-1133_2633-1130del
  • NM_001384127.1:c.2222-1133_2222-1130del
  • NM_001384128.1:c.2222-1133_2222-1130del
  • NM_001384130.1:c.*2928_*2931del
  • NM_001385118.1:c.*2928_*2931del
  • NM_139241.3:c.*2928_*2931del
  • LRG_240t1:c.*2928_*2931del
  • LRG_240t2:c.*2928_*2931del
  • LRG_240:g.248933_248936del
  • NC_000012.11:g.32796395_32796398del
  • NM_139241.2:c.*2928_*2931delTATC
Links:
dbSNP: rs549931906
NCBI 1000 Genomes Browser:
rs549931906
Molecular consequence:
  • NM_001304481.1:c.*2928_*2931del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001304484.2:c.*2928_*2931del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001330373.2:c.*2928_*2931del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001330374.2:c.*2928_*2931del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370297.1:c.*2928_*2931del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001370298.3:c.*2928_*2931del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001384130.1:c.*2928_*2931del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001385118.1:c.*2928_*2931del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_139241.3:c.*2928_*2931del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001384126.1:c.2633-1133_2633-1130del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001384127.1:c.2222-1133_2222-1130del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001384128.1:c.2222-1133_2222-1130del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 4
Synonyms:
Charcot-Marie-Tooth, Type 4
Identifiers:
MONDO: MONDO:0018995; MedGen: C4082197

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000378230Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000378230.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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