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NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) AND Tall stature-intellectual disability-renal anomalies syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 15, 2016
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:
RCV000240847.1

Allele description [Variation Report for NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)]

NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)

Gene:
FIBP:FGF1 intracellular binding protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)
HGVS:
  • NC_000011.10:g.65885181G>A
  • NG_047103.1:g.8359C>T
  • NM_004214.5:c.652C>TMANE SELECT
  • NM_198897.2:c.673C>T
  • NP_004205.2:p.Gln218Ter
  • NP_942600.1:p.Gln225Ter
  • NC_000011.9:g.65652652G>A
Protein change:
Q218*; GLN218TER
Links:
OMIM: 608296.0001; dbSNP: rs786204849
NCBI 1000 Genomes Browser:
rs786204849
Molecular consequence:
  • NM_004214.5:c.652C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198897.2:c.673C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Tall stature-intellectual disability-renal anomalies syndrome
Synonyms:
Thauvin-Robinet-Faivre syndrome
Identifiers:
MONDO: MONDO:0014918; MedGen: C4310715; OMIM: 617107

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000299335OMIM
no assertion criteria provided
Pathogenic
(Sep 15, 2016) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.

Thauvin-Robinet C, Duplomb-Jego L, Limoge F, Picot D, Masurel A, Terriat B, Champilou C, Minot D, St-Onge J, Kuentz P, Duffourd Y, Thevenon J, Rivière JB, Faivre L.

Clin Genet. 2016 May;89(5):e1-4. doi: 10.1111/cge.12704. Epub 2016 Jan 20.

PubMed [citation]
PMID:
26660953

Details of each submission

From OMIM, SCV000299335.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 23-year-old man, born of consanguineous North African parents, with Thauvin-Robinet-Faivre syndrome (TROFAS; 617107), Thauvin-Robinet et al. (2016) identified a homozygous c.652C-T transition (chr11.65,652,652G-A, GRCh37) in the FIBP gene, resulting in a gln218-to-ter (Q218X) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 135) and Exome Sequencing Project databases, as well as 260 in-house exomes. The mutation segregated with the disorder in the family. Patient cells showed significantly decreased levels of FIBP transcript compared to controls, suggesting nonsense-mediated mRNA decay. Patient fibroblasts showed excessive proliferation compared to controls.

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

Last Updated: Jun 23, 2024