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NM_198897.2(FIBP):c.673C>T (p.Gln225Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Sep 15, 2016)
Last evaluated:
Sep 15, 2016
Accession:
VCV000189359.1
Variation ID:
189359
Description:
single nucleotide variant
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NM_198897.2(FIBP):c.673C>T (p.Gln225Ter)

Allele ID
187243
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.1
Genomic location
11: 65885181 (GRCh38) GRCh38 UCSC
11: 65652652 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.65885181G>A
NC_000011.9:g.65652652G>A
NM_004214.5:c.652C>T NP_004205.2:p.Gln218Ter nonsense
... more HGVS
Protein change
Q218*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 608296.0001
dbSNP: rs786204849
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Sep 15, 2016 RCV000240847.1
Likely pathogenic 1 no assertion criteria provided Nov 24, 2014 RCV000169762.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FIBP - - GRCh38
GRCh37
4 13

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 24, 2014)
no assertion criteria provided
Method: research
overgrowth
macrocephaly
coloboma
facial dysmorphism
large hands
learning disabilities
Allele origin: inherited
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne
Accession: SCV000221322.1
Submitted: (Apr 08, 2015)
Evidence details
Pathogenic
(Sep 15, 2016)
no assertion criteria provided
Method: literature only
THAUVIN-ROBINET-FAIVRE SYNDROME
Allele origin: germline
OMIM
Accession: SCV000299335.1
Submitted: (Sep 15, 2016)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. Thauvin-Robinet C Clinical genetics 2016 PMID: 26660953

Record last updated Aug 25, 2019