NM_000142.4(FGFR3):c.2417C>T (p.Thr806Met) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jan 9, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001002305.1

Allele description [Variation Report for NM_000142.4(FGFR3):c.2417C>T (p.Thr806Met)]

NM_000142.4(FGFR3):c.2417C>T (p.Thr806Met)

Gene:
FGFR3:fibroblast growth factor receptor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000142.4(FGFR3):c.2417C>T (p.Thr806Met)
HGVS:
  • NC_000004.12:g.1807258C>T
  • NG_012632.1:g.18947C>T
  • NM_000142.4:c.2417C>T
  • NM_001163213.1:c.2423C>T
  • NM_001354809.2:c.2420C>T
  • NM_001354810.2:c.2349C>T
  • NM_022965.3:c.2081C>T
  • NP_000133.1:p.Thr806Met
  • NP_001156685.1:p.Thr808Met
  • NP_001341738.1:p.Thr807Met
  • NP_001341739.1:p.Asp783=
  • NP_075254.1:p.Thr694Met
  • LRG_1021t1:c.2417C>T
  • LRG_1021t2:c.2423C>T
  • LRG_1021:g.18947C>T
  • LRG_1021p1:p.Thr806Met
  • LRG_1021p2:p.Thr808Met
  • NC_000004.11:g.1808985C>T
  • NR_148971.2:n.2843C>T
Protein change:
T694M
Links:
dbSNP: rs374547489
NCBI 1000 Genomes Browser:
rs374547489
Molecular consequence:
  • NM_000142.4:c.2417C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001163213.1:c.2423C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354809.2:c.2420C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022965.3:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148971.2:n.2843C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001354810.2:c.2349C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001160196ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Jan 9, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001160196.1

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

Description

The FGFR3 c.2417C>T; p.Thr806Met variant (rs374547489), to our knowledge, is not reported in the medical literature or in gene-specific databases, and is only found on 2 alleles in the Genome Aggregation Database. The threonine at codon 806 is highly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. However, due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.

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

Last Updated: Oct 23, 2020

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