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NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) AND Familial scaphocephaly syndrome, McGillivray type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2005
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:
RCV000014221.27

Allele description [Variation Report for NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu)]

NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu)

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.1576A>G (p.Lys526Glu)
HGVS:
  • NC_000010.11:g.121498591T>C
  • NG_012449.2:g.104868A>G
  • NM_000141.5:c.1576A>GMANE SELECT
  • NM_001144913.1:c.1579A>G
  • NM_001144914.1:c.1240A>G
  • NM_001144915.2:c.1309A>G
  • NM_001144916.2:c.1231A>G
  • NM_001144917.2:c.1228A>G
  • NM_001144918.2:c.1225A>G
  • NM_001144919.2:c.1312A>G
  • NM_001320654.2:c.892A>G
  • NM_001320658.2:c.1570A>G
  • NM_022969.1:c.1579A>G
  • NM_022970.4:c.1579A>G
  • NM_023029.2:c.1309A>G
  • NP_000132.3:p.Lys526Glu
  • NP_000132.3:p.Lys526Glu
  • NP_001138385.1:p.Lys527Glu
  • NP_001138386.1:p.Lys414Glu
  • NP_001138387.1:p.Lys437Glu
  • NP_001138388.1:p.Lys411Glu
  • NP_001138389.1:p.Lys410Glu
  • NP_001138390.1:p.Lys409Glu
  • NP_001138391.1:p.Lys438Glu
  • NP_001307583.1:p.Lys298Glu
  • NP_001307587.1:p.Lys524Glu
  • NP_075258.1:p.Lys527Glu
  • NP_075259.4:p.Lys527Glu
  • NP_075259.4:p.Lys527Glu
  • NP_075418.1:p.Lys437Glu
  • LRG_994t1:c.1576A>G
  • LRG_994t2:c.1579A>G
  • LRG_994:g.104868A>G
  • LRG_994p1:p.Lys526Glu
  • LRG_994p2:p.Lys527Glu
  • NC_000010.10:g.123258105T>C
  • NM_000141.4:c.1576A>G
  • NM_022970.3:c.1579A>G
  • NR_073009.2:n.2012A>G
  • P21802:p.Lys526Glu
Protein change:
K298E; LYS526GLU
Links:
UniProtKB: P21802#VAR_023788; OMIM: 176943.0034; dbSNP: rs121918507
NCBI 1000 Genomes Browser:
rs121918507
Molecular consequence:
  • NM_000141.5:c.1576A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144913.1:c.1579A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144914.1:c.1240A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144915.2:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144916.2:c.1231A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144917.2:c.1228A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144918.2:c.1225A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144919.2:c.1312A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320654.2:c.892A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320658.2:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022969.1:c.1579A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022970.4:c.1579A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023029.2:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073009.2:n.2012A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Familial scaphocephaly syndrome, McGillivray type
Synonyms:
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT
Identifiers:
MONDO: MONDO:0012307; MedGen: C1865070; Orphanet: 168624; OMIM: 609579

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034469OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2005) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development.

Deng C, Bedford M, Li C, Xu X, Yang X, Dunmore J, Leder P.

Dev Biol. 1997 May 1;185(1):42-54.

PubMed [citation]
PMID:
9169049

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

McGillivray G, Savarirayan R, Cox TC, Stojkoski C, McNeil R, Bankier A, Bateman JF, Roscioli T, Gardner RJ, Lamandé SR.

J Med Genet. 2005 Aug;42(8):656-62. No abstract available.

PubMed [citation]
PMID:
16061565
PMCID:
PMC1736114

Details of each submission

From OMIM, SCV000034469.3

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

Description

In a father and 2 daughters, de Ravel et al. (2005) identified a heterozygous 1576A-G transition in the FGFR2 gene, resulting in a lys526-to-glu (K526E) substitution in the tyrosine kinase I domain of the protein. The father and 1 of the daughters were diagnosed with Crouzon syndrome (123500), whereas the other daughter had neither facial dysmorphism nor hand or foot anomalies, indicating clinical nonpenetrance.

In all 11 affected members of a 3-generation family with a scaphocephaly syndrome (609579), McGillivray et al. (2005) identified heterozygosity for the 1576A-G transition in exon 14 of the FGFR2 gene, resulting in the K526E substitution. The mutation was not found in 19 unaffected family members.

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

Last Updated: Oct 20, 2024