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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Krynitzkia crinita (7)
MeSH
Krynitzkia crinita AND (alive[prop]) (383)
Gene
Chrysosplenium kiotense F98 chloroplast gene for ribosomal protein L14, rpl14-rp...
Chrysosplenium kiotense F98 chloroplast gene for ribosomal protein L14, rpl14-rps8 intergenic spacer, ribosomal protein S8, rps8-infA intergenic spacer, translational initiation factor 1 and infA-rpl36 intergenic space, patial cds, complete sequence and complete cds
gi|2740872020|dbj|LC791923.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000299335	OMIM	no assertion criteria provided	Pathogenic (Sep 15, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000299335

OMIM

no assertion criteria provided

Pathogenic
(Sep 15, 2016)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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