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NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) AND Craniosynostosis, nonsyndromic unicoronal

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2000
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000014212.19

Allele description [Variation Report for NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)]

NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)

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.943G>T (p.Ala315Ser)
HGVS:
  • NC_000010.11:g.121517460C>A
  • NG_012449.2:g.85999G>T
  • NM_000141.5:c.943G>TMANE SELECT
  • NM_001144913.1:c.1087+1222G>T
  • NM_001144914.1:c.749-2141G>T
  • NM_001144915.2:c.676G>T
  • NM_001144916.2:c.598G>T
  • NM_001144917.2:c.939+2519G>T
  • NM_001144918.2:c.598G>T
  • NM_001144919.2:c.820+1222G>T
  • NM_001320654.2:c.259G>T
  • NM_001320658.2:c.943G>T
  • NM_022970.4:c.1087+1222G>T
  • NM_023029.2:c.676G>T
  • NP_000132.3:p.Ala315Ser
  • NP_000132.3:p.Ala315Ser
  • NP_001138387.1:p.Ala226Ser
  • NP_001138388.1:p.Ala200Ser
  • NP_001138390.1:p.Ala200Ser
  • NP_001307583.1:p.Ala87Ser
  • NP_001307587.1:p.Ala315Ser
  • NP_075418.1:p.Ala226Ser
  • LRG_994t1:c.943G>T
  • LRG_994:g.85999G>T
  • LRG_994p1:p.Ala315Ser
  • NC_000010.10:g.123276974C>A
  • NM_000141.4:c.943G>T
  • NR_073009.2:n.1379G>T
  • P21802:p.Ala315Ser
Protein change:
A200S; ALA315SER
Links:
UniProtKB: P21802#VAR_017267; OMIM: 176943.0028; dbSNP: rs121918504
NCBI 1000 Genomes Browser:
rs121918504
Molecular consequence:
  • NM_001144913.1:c.1087+1222G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144914.1:c.749-2141G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144917.2:c.939+2519G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144919.2:c.820+1222G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022970.4:c.1087+1222G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000141.5:c.943G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144915.2:c.676G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144916.2:c.598G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144918.2:c.598G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320654.2:c.259G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320658.2:c.943G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023029.2:c.676G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073009.2:n.1379G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Craniosynostosis, nonsyndromic unicoronal
Identifiers:
MedGen: C4016346

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034460OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2000) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?

Johnson D, Wall SA, Mann S, Wilkie AO.

Eur J Hum Genet. 2000 Aug;8(8):571-7.

PubMed [citation]
PMID:
10951518

Details of each submission

From OMIM, SCV000034460.2

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

Description

Johnson et al. (2000) found a novel heterozygous mutation of the FGFR2 gene (943G-T, encoding the amino acid substitution ala315 to ser) in a girl with nonsyndromic unicoronal craniosynostosis. The mutation was also present in her mother and maternal grandfather who had mild facial asymmetry but did not have craniosynostosis. None of these individuals had the Crouzonoid appearance typically associated with FGFR2 mutations. However, the obstetric history showed that the proband was in persistent breech presentation in utero and was delivered by cesarean section, at which time compression of the skull was apparent. Johnson et al. (2000) proposed that this particular FGFR2 mutation only confers a predisposition to craniosynostosis and that an additional environmental insult (in this case fetal head constraint associated with breech position) was necessary for craniosynostosis to occur. To their knowledge, this was the first report of an interaction between the weakly pathogenic mutation and intrauterine constraint, leading to craniosynostosis.

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

Last Updated: May 12, 2024