NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys) AND Thanatophoric dysplasia type 1

Clinical significance:Pathogenic (Last evaluated: Sep 12, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000017770.28

Allele description [Variation Report for NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys)]

NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys)

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.1108G>T (p.Gly370Cys)
HGVS:
  • NC_000004.12:g.1804362G>T
  • NG_012632.1:g.16051G>T
  • NM_000142.4:c.1108G>T
  • NM_001163213.1:c.1114G>T
  • NM_022965.3:c.931-462G>T
  • NP_000133.1:p.Gly370Cys
  • NP_001156685.1:p.Gly372Cys
  • LRG_1021t1:c.1108G>T
  • LRG_1021t2:c.1114G>T
  • LRG_1021:g.16051G>T
  • LRG_1021p1:p.Gly370Cys
  • LRG_1021p2:p.Gly372Cys
  • NC_000004.11:g.1806089G>T
  • NM_000142.3:c.1108G>T
  • P22607:p.Gly370Cys
Protein change:
G370C; GLY370CYS
Links:
UniProtKB: P22607#VAR_004151; OMIM: 134934.0033; dbSNP: rs121913479
NCBI 1000 Genomes Browser:
rs121913479
Molecular consequence:
  • NM_022965.3:c.931-462G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000142.4:c.1108G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Thanatophoric dysplasia type 1 (TD1)
Synonyms:
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE; LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE; Thanatophoric Dysplasia
Identifiers:
MedGen: C1868678; Orphanet: 1860; Orphanet: 2655; OMIM: 187600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038048OMIMno assertion criteria providedPathogenic
(Aug 1, 2006)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000086705GeneReviewsno assertion criteria providedpathologic
(Sep 12, 2013)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Citations

PubMed

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

Rousseau F, el Ghouzzi V, Delezoide AL, Legeai-Mallet L, Le Merrer M, Munnich A, Bonaventure J.

Hum Mol Genet. 1996 Apr;5(4):509-12.

PubMed [citation]
PMID:
8845844

Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.

Hafner C, van Oers JM, Vogt T, Landthaler M, Stoehr R, Blaszyk H, Hofstaedter F, Zwarthoff EC, Hartmann A.

J Clin Invest. 2006 Aug;116(8):2201-2207.

PubMed [citation]
PMID:
16841094
PMCID:
PMC1501112

Details of each submission

From OMIM, SCV000038048.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Rousseau et al. (1996) identified a gly370-to-cys (G370C) mutation accounting for 1 of 26 cases of TD1 (187600).

Hafner et al. (2006) analyzed the FGFR3 gene in 39 common epidermal nevi (162900) from 33 patients and identified mosaicism for a double mutation in exon 10 of the FGFR3 gene in 1 patient: the G372C mutation and the G382R (G380R; 134934.0001) mutation. Codons were numbered according to the FGFR3 IIIb isoform.

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

From GeneReviews, SCV000086705.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Apr 17, 2019

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