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NM_000141.5(FGFR2):c.1642A>C (p.Ile548Leu) AND Endometrium neoplasm

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 13, 2016
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:
RCV000438545.2

Allele description [Variation Report for NM_000141.5(FGFR2):c.1642A>C (p.Ile548Leu)]

NM_000141.5(FGFR2):c.1642A>C (p.Ile548Leu)

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.1642A>C (p.Ile548Leu)
HGVS:
  • NC_000010.11:g.121498525T>G
  • NG_012449.2:g.104934A>C
  • NM_000141.5:c.1642A>CMANE SELECT
  • NM_001144913.1:c.1645A>C
  • NM_001144914.1:c.1306A>C
  • NM_001144915.2:c.1375A>C
  • NM_001144916.2:c.1297A>C
  • NM_001144917.2:c.1294A>C
  • NM_001144918.2:c.1291A>C
  • NM_001144919.2:c.1378A>C
  • NM_001320654.2:c.958A>C
  • NM_001320658.2:c.1636A>C
  • NM_022969.1:c.1645A>C
  • NM_022970.4:c.1645A>C
  • NM_023029.2:c.1375A>C
  • NP_000132.3:p.Ile548Leu
  • NP_000132.3:p.Ile548Leu
  • NP_001138385.1:p.Ile549Leu
  • NP_001138386.1:p.Ile436Leu
  • NP_001138387.1:p.Ile459Leu
  • NP_001138388.1:p.Ile433Leu
  • NP_001138389.1:p.Ile432Leu
  • NP_001138390.1:p.Ile431Leu
  • NP_001138391.1:p.Ile460Leu
  • NP_001307583.1:p.Ile320Leu
  • NP_001307587.1:p.Ile546Leu
  • NP_075258.1:p.Ile549Leu
  • NP_075259.4:p.Ile549Leu
  • NP_075259.4:p.Ile549Leu
  • NP_075418.1:p.Ile459Leu
  • LRG_994t1:c.1642A>C
  • LRG_994t2:c.1645A>C
  • LRG_994:g.104934A>C
  • LRG_994p1:p.Ile548Leu
  • LRG_994p2:p.Ile549Leu
  • NC_000010.10:g.123258039T>G
  • NM_000141.4:c.1642A>C
  • NM_022970.3:c.1645A>C
  • NR_073009.2:n.2078A>C
Protein change:
I320L
Links:
dbSNP: rs1057519901
NCBI 1000 Genomes Browser:
rs1057519901
Molecular consequence:
  • NM_000141.5:c.1642A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144913.1:c.1645A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144914.1:c.1306A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144915.2:c.1375A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144916.2:c.1297A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144917.2:c.1294A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144918.2:c.1291A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144919.2:c.1378A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320654.2:c.958A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320658.2:c.1636A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022969.1:c.1645A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022970.4:c.1645A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023029.2:c.1375A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073009.2:n.2078A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Endometrium neoplasm
Synonyms:
Endometrial neoplasm
Identifiers:
MONDO: MONDO:0021251; MeSH: D016889; MedGen: C0014170

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000506407Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(May 13, 2016) 		somaticliterature only

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.

Pollock PM, Gartside MG, Dejeza LC, Powell MA, Mallon MA, Davies H, Mohammadi M, Futreal PA, Stratton MR, Trent JM, Goodfellow PJ.

Oncogene. 2007 Nov 1;26(50):7158-62. Epub 2007 May 21.

PubMed [citation]
PMID:
17525745
PMCID:
PMC2871595

Details of each submission

From Database of Curated Mutations (DoCM), SCV000506407.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024