NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 13, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000711636.4

Allele description [Variation Report for NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys)]

NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys)

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.1879G>A (p.Glu627Lys)
HGVS:
  • NC_000004.12:g.1806093G>A
  • NG_012632.1:g.17782G>A
  • NM_000142.5:c.1879G>AMANE SELECT
  • NM_001163213.1:c.1885G>A
  • NM_001354809.2:c.1882G>A
  • NM_001354810.2:c.1882G>A
  • NM_022965.3:c.1543G>A
  • NP_000133.1:p.Glu627Lys
  • NP_000133.1:p.Glu627Lys
  • NP_001156685.1:p.Glu629Lys
  • NP_001341738.1:p.Glu628Lys
  • NP_001341739.1:p.Glu628Lys
  • NP_075254.1:p.Glu515Lys
  • LRG_1021t1:c.1879G>A
  • LRG_1021t2:c.1885G>A
  • LRG_1021:g.17782G>A
  • LRG_1021p1:p.Glu627Lys
  • LRG_1021p2:p.Glu629Lys
  • NC_000004.11:g.1807820G>A
  • NM_000142.4:c.1879G>A
  • NR_148971.2:n.2305G>A
Protein change:
E515K
Links:
dbSNP: rs200849753
NCBI 1000 Genomes Browser:
rs200849753
Molecular consequence:
  • NM_000142.5:c.1879G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001163213.1:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354809.2:c.1882G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354810.2:c.1882G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022965.3:c.1543G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148971.2:n.2305G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000842022Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Jun 13, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001154149CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Apr 1, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV000842022.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001154149.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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