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NM_023110.3(FGFR1):c.2152C>G (p.Arg718Gly) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 21, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000423621.1

Allele description [Variation Report for NM_023110.3(FGFR1):c.2152C>G (p.Arg718Gly)]

NM_023110.3(FGFR1):c.2152C>G (p.Arg718Gly)

Gene:
FGFR1:fibroblast growth factor receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p11.23
Genomic location:
Preferred name:
NM_023110.3(FGFR1):c.2152C>G (p.Arg718Gly)
HGVS:
  • NC_000008.11:g.38414186G>C
  • NG_007729.1:g.59649C>G
  • NM_001174063.2:c.2146C>G
  • NM_001174064.2:c.2122C>G
  • NM_001174065.2:c.2146C>G
  • NM_001174066.2:c.1885C>G
  • NM_001174067.2:c.2245C>G
  • NM_001354367.2:c.2146C>G
  • NM_001354368.2:c.1873C>G
  • NM_001354369.2:c.2140C>G
  • NM_001354370.2:c.1879C>G
  • NM_015850.4:c.2146C>G
  • NM_023105.3:c.1885C>G
  • NM_023106.3:c.1879C>G
  • NM_023110.3:c.2152C>GMANE SELECT
  • NP_001167534.1:p.Arg716Gly
  • NP_001167535.1:p.Arg708Gly
  • NP_001167536.1:p.Arg716Gly
  • NP_001167537.1:p.Arg629Gly
  • NP_001167538.1:p.Arg749Gly
  • NP_001341296.1:p.Arg716Gly
  • NP_001341297.1:p.Arg625Gly
  • NP_001341298.1:p.Arg714Gly
  • NP_001341299.1:p.Arg627Gly
  • NP_056934.2:p.Arg716Gly
  • NP_075593.1:p.Arg629Gly
  • NP_075594.1:p.Arg627Gly
  • NP_075598.2:p.Arg718Gly
  • NP_075598.2:p.Arg718Gly
  • LRG_993t1:c.2152C>G
  • LRG_993:g.59649C>G
  • LRG_993p1:p.Arg718Gly
  • NC_000008.10:g.38271704G>C
  • NM_023110.2:c.2152C>G
Protein change:
R625G
Links:
dbSNP: rs1057520536
NCBI 1000 Genomes Browser:
rs1057520536
Molecular consequence:
  • NM_001174063.2:c.2146C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174064.2:c.2122C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174065.2:c.2146C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174066.2:c.1885C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174067.2:c.2245C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354367.2:c.2146C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354368.2:c.1873C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354369.2:c.2140C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354370.2:c.1879C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015850.4:c.2146C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023105.3:c.1885C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023106.3:c.1879C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023110.3:c.2152C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000515931GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Mar 21, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000515931.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The R718G variant in the FGFR1 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The R718G substitution was not observed in approximately6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The R718G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is well-conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (M719R, P722Y, C725Y) as well as a missense variant in the same residue (R718C) have been reported in the Human Gene Mutation Database in association with Kallmann syndrome and Hartsfield syndrome (Stenson et al., 2014), supporting thefunctional importance of this region of the protein. We interpret R718G as a pathogenic variant.

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

Last Updated: Apr 23, 2022