NM_001370298.3(FGD4):c.1248-16dup AND not provided

Clinical significance:Likely benign (Last evaluated: Apr 30, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001712441.1

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000564984GeneDxcriteria provided, single submitter
Likely benign
(Apr 30, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000564984.5

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

Last Updated: Nov 27, 2021

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