NM_001370298.3(FGD4):c.2047-292C>T AND not provided

Clinical significance:Benign (Last evaluated: Jun 19, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001370298.3(FGD4):c.2047-292C>T]


FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
  • NC_000012.12:g.32625362C>T
  • NG_008626.2:g.230834C>T
  • NM_001304481.1:c.1891-292C>T
  • NM_001304483.2:c.892-292C>T
  • NM_001304484.2:c.604-292C>T
  • NM_001330373.2:c.1357-292C>T
  • NM_001330374.2:c.1357-292C>T
  • NM_001370297.1:c.1084-292C>T
  • NM_001370298.3:c.2047-292C>TMANE SELECT
  • NM_001384126.1:c.2047-292C>T
  • NM_001384127.1:c.1636-292C>T
  • NM_001384128.1:c.1636-292C>T
  • NM_001384130.1:c.1357-292C>T
  • NM_001385118.1:c.1636-292C>T
  • NM_139241.3:c.1636-292C>T
  • LRG_240t1:c.1636-292C>T
  • LRG_240t2:c.1891-292C>T
  • LRG_240:g.230834C>T
  • NC_000012.11:g.32778296C>T
  • NM_139241.2:c.1636-292C>T
dbSNP: rs11052111
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001304481.1:c.1891-292C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304483.2:c.892-292C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304484.2:c.604-292C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330373.2:c.1357-292C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330374.2:c.1357-292C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370297.1:c.1084-292C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370298.3:c.2047-292C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001384126.1:c.2047-292C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001384127.1:c.1636-292C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001384128.1:c.1636-292C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001384130.1:c.1357-292C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385118.1:c.1636-292C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_139241.3:c.1636-292C>T - intron variant - [Sequence Ontology: SO:0001627]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000969350GeneDxcriteria provided, single submitter
(Jun 19, 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, SCV000969350.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided


This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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