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NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
Jun 13, 2018
Accession:
VCV000221944.9
Variation ID:
221944
Description:
single nucleotide variant
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NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys)

Allele ID
223619
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.3
Genomic location
4: 1806093 (GRCh38) GRCh38 UCSC
4: 1807820 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.1807820G>A
NC_000004.12:g.1806093G>A
NG_012632.1:g.17782G>A
... more HGVS
Protein change
E629K, E627K, E515K, E628K
Other names
-
Canonical SPDI
NC_000004.12:1806092:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00009
Exome Aggregation Consortium (ExAC) 0.00024
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00018
Links
ClinGen: CA072649
dbSNP: rs200849753
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Jun 13, 2018 RCV000711636.4
Likely benign 1 criteria provided, single submitter Jan 1, 2013 RCV000207413.1
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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
Likely benign
(Jan 01, 2013)
criteria provided, single submitter
Method: clinical testing
None
Allele origin: inherited
Paul Sabatier University EA-4555, Paul Sabatier University
Accession: SCV000259141.2
Submitted: (Dec 17, 2015)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Jun 13, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842022.1
Submitted: (Aug 31, 2018)
Evidence details
Uncertain significance
(Apr 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001154149.7
Submitted: (Jul 04, 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
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Chassaing N Genome research 2016 PMID: 26893459

Text-mined citations for rs200849753...

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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 08, 2021