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NM_000142.5(FGFR3):c.678C>T (p.Tyr226=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 21, 2021)
Last evaluated:
Jun 22, 2021
Accession:
VCV000198044.8
Variation ID:
198044
Description:
single nucleotide variant
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NM_000142.5(FGFR3):c.678C>T (p.Tyr226=)

Allele ID
195205
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.3
Genomic location
4: 1801682 (GRCh38) GRCh38 UCSC
4: 1803409 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.1803409C>T
NC_000004.12:g.1801682C>T
NG_012632.1:g.13371C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:1801681:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00138
The Genome Aggregation Database (gnomAD), exomes 0.00128
Trans-Omics for Precision Medicine (TOPMed) 0.00136
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00100
The Genome Aggregation Database (gnomAD) 0.00140
1000 Genomes Project 0.00040
Links
ClinGen: CA203201
dbSNP: rs141575580
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 3 criteria provided, multiple submitters, no conflicts Jun 22, 2021 RCV001532499.4
Benign 2 criteria provided, single submitter Apr 22, 2015 RCV000179257.2
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV000641217.3
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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
373 509

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 22, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000231478.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Craniosynostosis
Allele origin: germline
Invitae
Accession: SCV000762856.3
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Jun 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001748092.1
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(Jun 22, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001783852.1
Submitted: (Aug 13, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001799955.1
Submitted: (Aug 19, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001969195.1
Submitted: (Sep 21, 2021)
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FGFR3 - - - -

Text-mined citations for rs141575580...

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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 Oct 07, 2021