NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 6, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000493112.2

Allele description [Variation Report for NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly)]

NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly)

Gene:
FGFR3:fibroblast growth factor receptor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly)
Other names:
*807G; *809G; *695G; *808G
HGVS:
  • NC_000004.12:g.1807260T>G
  • NG_012632.1:g.18949T>G
  • NM_000142.5:c.2419T>GMANE SELECT
  • NM_001163213.1:c.2425T>G
  • NM_001354809.2:c.2422T>G
  • NM_001354810.2:c.2351T>G
  • NM_022965.3:c.2083T>G
  • NP_000133.1:p.Ter807Gly
  • NP_000133.1:p.Ter807Gly
  • NP_001156685.1:p.Ter809Gly
  • NP_001341738.1:p.Ter808Gly
  • NP_001341739.1:p.Val784Gly
  • NP_075254.1:p.Ter695Gly
  • LRG_1021t1:c.2419T>G
  • LRG_1021t2:c.2425T>G
  • LRG_1021:g.18949T>G
  • LRG_1021p1:p.Ter807Gly
  • LRG_1021p2:p.Ter809Gly
  • NC_000004.11:g.1808987T>G
  • NM_000142.3:c.2419T>G
  • NM_000142.4:c.2419T>G
  • NR_148971.2:n.2845T>G
Protein change:
V784G; TER807GLY
Links:
OMIM: 134934.0007; dbSNP: rs121913101
NCBI 1000 Genomes Browser:
rs121913101
Molecular consequence:
  • NM_001354810.2:c.2351T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148971.2:n.2845T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000142.5:c.2419T>G - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001163213.1:c.2425T>G - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001354809.2:c.2422T>G - stop lost - [Sequence Ontology: SO:0001578]
  • NM_022965.3:c.2083T>G - stop lost - [Sequence Ontology: SO:0001578]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000583019GeneDxcriteria provided, single submitter
Pathogenic
(Dec 6, 2018)
germlineclinical testing

Citation Link,

SCV001247236CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Apr 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000583019.3

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

Description

The c.2419 T>G pathogenic variant in the FGFR3 gene has been previously reported in association with thanatophoric dysplasia 1 (for examples see Rousseau et al., 1995; Chen et al., 2017; Xue et al., 2014). This amino acid substitution results in the replacement of a Stop codon with a Glycine codon at amino acid position 807 and subsequently extends the protein by 101 amino acids, denoted p.X807GextX101. Functional studies show that an equivalent extension due to the Stop codon variant (p.X807RextX101) results in constitutive activation of the receptor (Gibbs et al., 2007; Bonaventure et al., 2007). The c.2419 T>G variant is not observed in large population cohorts (Lek et al., 2016). Other stop codon variants resulting in protein extension (X807L/S/C/W/R) have been reported in the Human Gene Mutation Database in association with thanatophoric dysplasia (Stenson et al., 2014).

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001247236.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 10, 2021

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