NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) AND Encephalocraniocutaneous lipomatosis

Clinical significance:Uncertain significance (Last evaluated: Oct 24, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)]

NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)

FGFR1:fibroblast growth factor receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)
  • NC_000008.11:g.38418316G>A
  • NG_007729.1:g.55519C>T
  • NM_001174063.2:c.1336C>T
  • NM_001174064.2:c.1312C>T
  • NM_001174065.2:c.1336C>T
  • NM_001174066.2:c.1075C>T
  • NM_001174067.1:c.1435C>T
  • NM_001174067.2:c.1435C>T
  • NM_001354367.2:c.1336C>T
  • NM_001354368.2:c.1063C>T
  • NM_001354369.2:c.1330C>T
  • NM_001354370.2:c.1069C>T
  • NM_015850.4:c.1336C>T
  • NM_023105.3:c.1075C>T
  • NM_023106.3:c.1069C>T
  • NM_023110.3:c.1342C>TMANE SELECT
  • NP_001167534.1:p.Arg446Trp
  • NP_001167535.1:p.Arg438Trp
  • NP_001167536.1:p.Arg446Trp
  • NP_001167537.1:p.Arg359Trp
  • NP_001167538.1:p.Arg479Trp
  • NP_001167538.1:p.Arg479Trp
  • NP_001341296.1:p.Arg446Trp
  • NP_001341297.1:p.Arg355Trp
  • NP_001341298.1:p.Arg444Trp
  • NP_001341299.1:p.Arg357Trp
  • NP_056934.2:p.Arg446Trp
  • NP_075593.1:p.Arg359Trp
  • NP_075594.1:p.Arg357Trp
  • NP_075598.2:p.Arg448Trp
  • LRG_993:g.55519C>T
  • NC_000008.10:g.38275834G>A
Protein change:
Molecular consequence:
  • NM_001174063.2:c.1336C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174064.2:c.1312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174065.2:c.1336C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174066.2:c.1075C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174067.1:c.1435C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174067.2:c.1435C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354367.2:c.1336C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354368.2:c.1063C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354369.2:c.1330C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354370.2:c.1069C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015850.4:c.1336C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023105.3:c.1075C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023106.3:c.1069C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023110.3:c.1342C>T - missense variant - [Sequence Ontology: SO:0001583]


Encephalocraniocutaneous lipomatosis (ECCL)
MONDO: MONDO:0013074; MedGen: C0406612; Orphanet: 2396; OMIM: 613001

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001369529Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Uncertain significance
(Oct 24, 2019)
unknownclinical testing

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

Summary from all submissions

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



Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV001369529.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)


This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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