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NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
8 (Most recent: May 22, 2018)
Last evaluated:
May 25, 2017
Accession:
VCV000224897.2
Variation ID:
224897
Description:
single nucleotide variant
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NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)

Allele ID
226760
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p11.23
Genomic location
8: 38414790 (GRCh38) GRCh38 UCSC
8: 38272308 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P11362:p.Lys656Glu
LRG_993:g.59045A>G
LRG_993t1:c.1966A>G LRG_993p1:p.Lys656Glu
... more HGVS
Protein change
K656E, K652E, K687E, K646E, K563E, K565E, K567E, K654E
Other names
-
Canonical SPDI
NC_000008.11:38414789:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA358862
UniProtKB: P11362#VAR_075855
OMIM: 136350.0034
dbSNP: rs869320694
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 no assertion criteria provided May 25, 2017 RCV000210479.3
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000420790.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000420160.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000430840.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000438709.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000428027.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000441552.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FGFR1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
479 531

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 11, 2016)
no assertion criteria provided
Method: literature only
ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
Allele origin: unknown
OMIM
Accession: SCV000266575.2
Submitted: (Aug 11, 2016)
Evidence details
Publications
PubMed (2)
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Glioblastoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506342.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Astrocytoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506343.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Medulloblastoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506344.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Lymphoblastic leukemia, acute, with lymphomatous features
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506345.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Transitional cell carcinoma of the bladder
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506346.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Hepatocellular carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506347.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 25, 2017)
no assertion criteria provided
Method: research
Encephalocraniocutaneous lipomatosis
Allele origin: unknown
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV000882923.1
Submitted: (May 22, 2018)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Bennett JT American journal of human genetics 2016 PMID: 26942290
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT Nature biotechnology 2016 PMID: 26619011
Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): case report and literature review of low grade gliomas in ECCL. Bieser S American journal of medical genetics. Part A 2015 PMID: 25705862
http://docm.genome.wustl.edu/variants/ENST00000425967:c.2059A>G - - - -

Text-mined citations for rs869320694...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 04, 2021