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

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
Dec 6, 2018
Accession:
VCV000016334.7
Variation ID:
16334
Description:
single nucleotide variant
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NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly)

Allele ID
31373
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.3
Genomic location
4: 1807260 (GRCh38) GRCh38 UCSC
4: 1808987 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.1808987T>G
NC_000004.12:g.1807260T>G
NM_000142.5:c.2419T>G MANE Select NP_000133.1:p.Ter807Gly stop lost
... more HGVS
Protein change
V784G
Other names
*807G
*809G
*695G
*808G
Canonical SPDI
NC_000004.12:1807259:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 134934.0007
dbSNP: rs121913101
ClinGen: CA341401
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Dec 6, 2018 RCV000493112.2
Pathogenic 3 no assertion criteria provided Nov 18, 2018 RCV000017737.29
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FGFR3 No evidence available No evidence available GRCh38
GRCh37
358 494

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001247236.5
Submitted: (Jul 04, 2021)
Evidence details
Pathogenic
(Dec 06, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000583019.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
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., … (more)
pathologic
(Sep 12, 2013)
no assertion criteria provided
Method: curation
Thanatophoric Dysplasia
Allele origin: not provided
GeneReviews
Accession: SCV000086712.1
Submitted: (Apr 30, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(May 01, 1995)
no assertion criteria provided
Method: literature only
THANATOPHORIC DYSPLASIA, TYPE I
Allele origin: germline
OMIM
Accession: SCV000038015.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(Nov 18, 2018)
no assertion criteria provided
Method: clinical testing
thanatophoric dysplasia type 1
Allele origin: germline
Baylor Genetics
Accession: SCV000854613.1
Submitted: (Nov 23, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Thanatophoric Dysplasia French T - 2020 PMID: 20301540
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Rousseau F Nature genetics 1995 PMID: 7647778

Text-mined citations for rs121913101...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 10, 2021