NM_000142.5(FGFR3):c.389C>T (p.Ser130Phe) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 26, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000431217.1

Allele description [Variation Report for NM_000142.5(FGFR3):c.389C>T (p.Ser130Phe)]

NM_000142.5(FGFR3):c.389C>T (p.Ser130Phe)

Gene:
FGFR3:fibroblast growth factor receptor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000142.5(FGFR3):c.389C>T (p.Ser130Phe)
HGVS:
  • NC_000004.12:g.1799756C>T
  • NG_012632.1:g.11445C>T
  • NM_000142.5:c.389C>TMANE SELECT
  • NM_001163213.2:c.389C>T
  • NM_001354809.2:c.389C>T
  • NM_001354810.2:c.389C>T
  • NM_022965.4:c.389C>T
  • NP_000133.1:p.Ser130Phe
  • NP_000133.1:p.Ser130Phe
  • NP_001156685.1:p.Ser130Phe
  • NP_001341738.1:p.Ser130Phe
  • NP_001341739.1:p.Ser130Phe
  • NP_075254.1:p.Ser130Phe
  • LRG_1021t1:c.389C>T
  • LRG_1021:g.11445C>T
  • LRG_1021p1:p.Ser130Phe
  • NC_000004.11:g.1801483C>T
  • NM_000142.4:c.389C>T
  • NR_148971.2:n.664C>T
Protein change:
S130F
Links:
dbSNP: rs113172184
NCBI 1000 Genomes Browser:
rs113172184
Molecular consequence:
  • NM_000142.5:c.389C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001163213.2:c.389C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354809.2:c.389C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354810.2:c.389C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022965.4:c.389C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148971.2:n.664C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000536487GeneDxcriteria provided, single submitter
Uncertain significance
(Jan 26, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000536487.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The S130F variant in the FGFR3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S130F variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S130F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret S130F as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

Support Center