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NM_000141.5(FGFR2):c.1605G>A (p.Met535Ile) AND Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 26, 2014
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:
RCV000417871.1

Allele description [Variation Report for NM_000141.5(FGFR2):c.1605G>A (p.Met535Ile)]

NM_000141.5(FGFR2):c.1605G>A (p.Met535Ile)

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.1605G>A (p.Met535Ile)
HGVS:
  • NC_000010.11:g.121498562C>T
  • NG_012449.2:g.104897G>A
  • NM_000141.5:c.1605G>AMANE SELECT
  • NM_001144913.1:c.1608G>A
  • NM_001144914.1:c.1269G>A
  • NM_001144915.2:c.1338G>A
  • NM_001144916.2:c.1260G>A
  • NM_001144917.2:c.1257G>A
  • NM_001144918.2:c.1254G>A
  • NM_001144919.2:c.1341G>A
  • NM_001320654.2:c.921G>A
  • NM_001320658.2:c.1599G>A
  • NM_022969.1:c.1608G>A
  • NM_022970.4:c.1608G>A
  • NM_023029.2:c.1338G>A
  • NP_000132.3:p.Met535Ile
  • NP_000132.3:p.Met535Ile
  • NP_001138385.1:p.Met536Ile
  • NP_001138386.1:p.Met423Ile
  • NP_001138387.1:p.Met446Ile
  • NP_001138388.1:p.Met420Ile
  • NP_001138389.1:p.Met419Ile
  • NP_001138390.1:p.Met418Ile
  • NP_001138391.1:p.Met447Ile
  • NP_001307583.1:p.Met307Ile
  • NP_001307587.1:p.Met533Ile
  • NP_075258.1:p.Met536Ile
  • NP_075259.4:p.Met536Ile
  • NP_075259.4:p.Met536Ile
  • NP_075418.1:p.Met446Ile
  • LRG_994t1:c.1605G>A
  • LRG_994t2:c.1608G>A
  • LRG_994:g.104897G>A
  • LRG_994p1:p.Met535Ile
  • LRG_994p2:p.Met536Ile
  • NC_000010.10:g.123258076C>T
  • NM_000141.4:c.1605G>A
  • NM_022970.3:c.1608G>A
  • NR_073009.2:n.2041G>A
Protein change:
M307I
Links:
dbSNP: rs1057519800
NCBI 1000 Genomes Browser:
rs1057519800
Molecular consequence:
  • NM_000141.5:c.1605G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144913.1:c.1608G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144914.1:c.1269G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144915.2:c.1338G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144916.2:c.1260G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144917.2:c.1257G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144918.2:c.1254G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001144919.2:c.1341G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320654.2:c.921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320658.2:c.1599G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022969.1:c.1608G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022970.4:c.1608G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023029.2:c.1338G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073009.2:n.2041G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
Identifiers:
MedGen: C0279763

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000505197Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(Dec 26, 2014) 		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

The N550K/H mutations in FGFR2 confer differential resistance to PD173074, dovitinib, and ponatinib ATP-competitive inhibitors.

Byron SA, Chen H, Wortmann A, Loch D, Gartside MG, Dehkhoda F, Blais SP, Neubert TA, Mohammadi M, Pollock PM.

Neoplasia. 2013 Aug;15(8):975-88.

PubMed [citation]
PMID:
23908597
PMCID:
PMC3730048

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505197.1

#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: Nov 13, 2022