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NM_000142.4(FGFR3):c.930+10C>T

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Dec 11, 2020)
Last evaluated:
Oct 24, 2019
Accession:
VCV000585865.3
Variation ID:
585865
Description:
single nucleotide variant
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NM_000142.4(FGFR3):c.930+10C>T

Allele ID
576776
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.3
Genomic location
4: 1802035 (GRCh38) GRCh38 UCSC
4: 1803762 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.1803762C>T
NC_000004.12:g.1802035C>T
NM_001354809.2:c.930+10C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:1802034:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00027
The Genome Aggregation Database (gnomAD) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00022
Trans-Omics for Precision Medicine (TOPMed) 0.00014
1000 Genomes Project 0.00040
Links
dbSNP: rs534857289
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Nov 3, 2017 RCV000711643.2
Likely benign 1 criteria provided, single submitter Oct 24, 2019 RCV001289710.1
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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
366 502

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 03, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842029.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Apr 19, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001092481.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Oct 24, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001477686.1
Submitted: (Dec 11, 2020)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs534857289...

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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 Jan 30, 2021