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NM_000141.5(FGFR2):c.759T>G (p.Pro253=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Aug 3, 2021)
Last evaluated:
Aug 30, 2020
Accession:
VCV000500287.5
Variation ID:
500287
Description:
single nucleotide variant
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NM_000141.5(FGFR2):c.759T>G (p.Pro253=)

Allele ID
491711
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q26.13
Genomic location
10: 121520159 (GRCh38) GRCh38 UCSC
10: 123279673 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.123279673A>C
NC_000010.11:g.121520159A>C
NM_000141.5:c.759T>G MANE Select NP_000132.3:p.Pro253= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:121520158:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00072
Exome Aggregation Consortium (ExAC) 0.00040
The Genome Aggregation Database (gnomAD), exomes 0.00037
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00077
The Genome Aggregation Database (gnomAD) 0.00041
1000 Genomes Project 0.00020
Links
ClinGen: CA5721004
dbSNP: rs3135755
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Aug 30, 2020 RCV001085609.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jul 21, 2020 RCV000594519.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FGFR2 - - GRCh38
GRCh37
364 407

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 23, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000706163.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Aug 30, 2020)
criteria provided, single submitter
Method: clinical testing
FGFR2 related craniosynostosis
Allele origin: germline
Invitae
Accession: SCV001106755.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jul 21, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001765289.1
Submitted: (Aug 03, 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=FGFR2 - - - -

Text-mined citations for rs3135755...

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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 Aug 17, 2021