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NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 1, 2021)
Last evaluated:
Apr 14, 2021
Accession:
VCV000016354.5
Variation ID:
16354
Description:
single nucleotide variant
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NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn)

Allele ID
31393
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.3
Genomic location
4: 1805561 (GRCh38) GRCh38 UCSC
4: 1807288 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P22607:p.Asp513Asn
LRG_1021:g.17250G>A
LRG_1021t2:c.1543G>A LRG_1021p2:p.Asp515Asn
... more HGVS
Protein change
D513N, D515N, D401N, D514N
Other names
-
Canonical SPDI
NC_000004.12:1805560:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00005
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
ClinGen: CA126384
UniProtKB: P22607#VAR_029887
OMIM: 134934.0028
dbSNP: rs121913112
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 12, 2019 RCV001286715.1
Uncertain significance 1 criteria provided, single submitter Apr 14, 2021 RCV001580446.3
Pathogenic 1 no assertion criteria provided Apr 1, 2006 RCV000017764.28
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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
Uncertain significance
(Sep 12, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001473329.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The FGFR3 c.1537G>A; p.Asp513Asn variant (rs121913112) is reported in the literature in a family affected with lacrimo-auriculo-dento-digital syndrome (Rohmann 2006). This variant co-segregated with disease … (more)
Uncertain significance
(Apr 14, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001817675.1
Submitted: (Sep 01, 2021)
Evidence details
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31589614, 17682060, … (more)
Pathogenic
(Apr 01, 2006)
no assertion criteria provided
Method: literature only
LADD SYNDROME
Allele origin: germline
OMIM
Accession: SCV000038042.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Mutations in different components of FGF signaling in LADD syndrome. Rohmann E Nature genetics 2006 PMID: 16501574

Text-mined citations for rs121913112...

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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 Sep 29, 2021