NM_000141.4(FGFR2):c.870G>T (p.Trp290Cys)

Variation ID: Help
13293
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Sep 17, 2016
Number of submission(s):
3
Condition(s):
  • Pfeiffer syndrome [MedGen - OMIM]
  • Craniofacial-skeletal-dermatologic dysplasia [MedGen]
See supporting ClinVar records

Allele(s) Help

NM_000141.4(FGFR2):c.870G>T (p.Trp290Cys)

Allele ID:
28332
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.1
Genomic location:
  • Chr10: 121520048 (on Assembly GRCh38)
  • Chr10: 123279562 (on Assembly GRCh37)
Other names:
  • FGFR2, TRP290CYS, 870G-T
Protein change:
W290C
HGVS:
  • NG_012449.2:g.83411G>T
  • NM_000141.4:c.870G>T
  • NM_001144914.1:c.749-4729G>T
  • NM_022970.3:c.870G>T
  • NP_000132.3:p.Trp290Cys
  • NP_075259.4:p.Trp290Cys
  • NC_000010.11:g.121520048C>A (GRCh38)
  • NR_073009.1:n.1172G>T
  • NC_000010.10:g.123279562C>A (GRCh37)
  • NG_012449.1:g.83411G>T
  • P21802:p.Trp290Cys
Links:
NCBI 1000 Genomes Browser:
rs121918499
Molecular consequence:
  • NM_000141.4:c.870G>T: missense variant SO:0001583
  • NM_001144914.1:c.749-4729G>T: intron variant SO:0001627
  • NR_073009.1:n.1172G>T: non-coding transcript variant SO:0001619

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Sep 17, 2016)
criteria provided, single submitter
clinical testinggermline
    Division of Genomic Diagnostics,The Children's Hospital of Philadelphia
    Study description
    SCV000328379.1
    Pathogenic
    (Nov 15, 2002)
    no assertion criteria providedliterature onlygermlineOMIMSCV000034465.1
    Pathogenic
    (Nov 15, 2002)
    no assertion criteria providedliterature only
    • Craniofacial-skeletal-dermatologic dysplasia[MedGen]
    germlineOMIMSCV000034466.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot provided8germlinenot providednot provided
    Division of Genomic Diagnostics,The Children's Hospital of Philadelphianot provided8germlinenot providednot providednot providednot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Sep 19, 2017