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NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) AND Crouzon syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 17, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000415513.4

Allele description [Variation Report for NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)]

NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)

Gene:
FGFR2:fibroblast growth factor receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.13
Genomic location:
Preferred name:
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)
HGVS:
  • NC_000010.11:g.121517390C>T
  • NG_012449.2:g.86069G>A
  • NM_000141.5:c.1013G>AMANE SELECT
  • NM_001144913.1:c.1087+1292G>A
  • NM_001144914.1:c.749-2071G>A
  • NM_001144915.2:c.746G>A
  • NM_001144916.2:c.668G>A
  • NM_001144917.2:c.939+2589G>A
  • NM_001144918.2:c.668G>A
  • NM_001144919.2:c.820+1292G>A
  • NM_001320654.2:c.329G>A
  • NM_001320658.2:c.1013G>A
  • NM_022970.4:c.1087+1292G>A
  • NM_023029.2:c.746G>A
  • NP_000132.3:p.Gly338Glu
  • NP_000132.3:p.Gly338Glu
  • NP_001138387.1:p.Gly249Glu
  • NP_001138388.1:p.Gly223Glu
  • NP_001138390.1:p.Gly223Glu
  • NP_001307583.1:p.Gly110Glu
  • NP_001307587.1:p.Gly338Glu
  • NP_075418.1:p.Gly249Glu
  • LRG_994t1:c.1013G>A
  • LRG_994:g.86069G>A
  • LRG_994p1:p.Gly338Glu
  • NC_000010.10:g.123276904C>T
  • NM_000141.4:c.1013G>A
  • NR_073009.2:n.1449G>A
  • p.[Gly338Glu]
Protein change:
G110E
Links:
dbSNP: rs1057519044
NCBI 1000 Genomes Browser:
rs1057519044
Molecular consequence:
  • NM_001144913.1:c.1087+1292G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144914.1:c.749-2071G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144917.2:c.939+2589G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144919.2:c.820+1292G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022970.4:c.1087+1292G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000141.5:c.1013G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144915.2:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144916.2:c.668G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144918.2:c.668G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320654.2:c.329G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320658.2:c.1013G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023029.2:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073009.2:n.1449G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Crouzon syndrome
Synonyms:
CRANIOFACIAL DYSOSTOSIS, TYPE I; Crouzon craniofacial dysostosis; Crouzon disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007405; MeSH: D003394; MedGen: C0010273; Orphanet: 207; OMIM: 123500; Human Phenotype Ontology: HP:0004439

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000328387Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
criteria provided, single submitter

(DGD Variant Analysis Guidelines)		Pathogenic
(Sep 17, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000328387.2

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

Last Updated: Sep 29, 2024