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NM_000141.5(FGFR2):c.940-1G>A AND Pfeiffer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2002
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:
RCV000014215.24

Allele description [Variation Report for NM_000141.5(FGFR2):c.940-1G>A]

NM_000141.5(FGFR2):c.940-1G>A

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.940-1G>A
HGVS:
  • NC_000010.11:g.121517464C>T
  • NG_012449.2:g.85995G>A
  • NM_000141.5:c.940-1G>AMANE SELECT
  • NM_001144913.1:c.1087+1218G>A
  • NM_001144914.1:c.749-2145G>A
  • NM_001144915.2:c.673-1G>A
  • NM_001144916.2:c.595-1G>A
  • NM_001144917.2:c.939+2515G>A
  • NM_001144918.2:c.595-1G>A
  • NM_001144919.2:c.820+1218G>A
  • NM_001320654.2:c.256-1G>A
  • NM_001320658.2:c.940-1G>A
  • NM_022970.4:c.1087+1218G>A
  • NM_023029.2:c.673-1G>A
  • LRG_994t1:c.940-1G>A
  • LRG_994:g.85995G>A
  • NC_000010.10:g.123276978C>T
  • NM_000141.4:c.940-1G>A
Nucleotide change:
IVSAS, G-A, -1
Links:
OMIM: 176943.0030; dbSNP: rs879253719
NCBI 1000 Genomes Browser:
rs879253719
Molecular consequence:
  • NM_001144913.1:c.1087+1218G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144914.1:c.749-2145G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144917.2:c.939+2515G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001144919.2:c.820+1218G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022970.4:c.1087+1218G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000141.5:c.940-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001144915.2:c.673-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001144916.2:c.595-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001144918.2:c.595-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001320654.2:c.256-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001320658.2:c.940-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_023029.2:c.673-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Pfeiffer syndrome (ACS5)
Synonyms:
ACS V; Pfeiffer type acrocephalosyndactyly; Acrocephalosyndactyly, type 5
Identifiers:
MONDO: MONDO:0007043; MedGen: C0220658; Orphanet: 710; OMIM: 101600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034463OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2002) 		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

Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2.

Teebi AS, Kennedy S, Chun K, Ray PN.

Am J Med Genet. 2002 Jan 1;107(1):43-7.

PubMed [citation]
PMID:
11807866

Details of each submission

From OMIM, SCV000034463.2

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

Description

In a patient with a mild phenotype typical of classic Pfeiffer syndrome (101600) of subtype 1, including brachycephaly with coronal synostosis and hypertelorism, Teebi et al. (2002) identified a 952G-A transition at the -1 position of 3-prime acceptor site of exon IIIc of the FGFR2 gene. They found a different mutation at the same site in a patient with a severe Pfeiffer syndrome phenotype; see 176943.0031.

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

Last Updated: Sep 29, 2024