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NM_000128.3(F11):c.403G>T (p.Glu135Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Mar 28, 2019)
Last evaluated:
Feb 1, 2019
Accession:
VCV000011891.5
Variation ID:
11891
Description:
single nucleotide variant
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NM_000128.3(F11):c.403G>T (p.Glu135Ter)

Allele ID
26930
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186274193 (GRCh38) GRCh38 UCSC
4: 187195347 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.187195347G>T
NC_000004.12:g.186274193G>T
NM_001354804.2:c.403G>T NP_001341733.1:p.Glu135Ter nonsense
... more HGVS
Protein change
E117*
Other names
F11, GLU117TER
E117X
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00078
The Genome Aggregation Database (gnomAD) 0.00035
The Genome Aggregation Database (gnomAD), exomes 0.00093
Trans-Omics for Precision Medicine (TOPMed) 0.00048
Links
ClinGen: CA121745
OMIM: 264900.0002
dbSNP: rs121965063
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 6 criteria provided, multiple submitters, no conflicts Feb 1, 2019 RCV000012666.28
Pathogenic 3 criteria provided, multiple submitters, no conflicts Dec 21, 2018 RCV000311271.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F11 - - GRCh38
GRCh37
152 325

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Factor XI Deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000448983.2
Submitted: (Oct 18, 2016)
Evidence details
Publications
PubMed (4)
Comment:
The c.403G>T (p.Glu135Ter) stop-gained variant is a founder variant in the Ashkenazi Jewish population predicted to result in premature termination of the protein. The p.Glu135Ter ... (more)
Pathogenic
(Jun 17, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000330013.5
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The E135X variant in the F11 gene has been identified in the heterozygous state, homozygous state, and compound heterozygous state in individuals with Factor XI ... (more)
Pathogenic
(Oct 26, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary factor XI deficiency disease
Allele origin: unknown
Counsyl
Accession: SCV000678061.1
Submitted: (Jun 22, 2017)
Evidence details
Publications
PubMed (4)
Pathogenic
(Jun 05, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary factor XI deficiency disease
Allele origin: germline
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine
Accession: SCV000839954.1
Submitted: (Jun 14, 2018)
Evidence details
Comment:
This c.403G>T (p.Glu135*) variant in the F11 gene was first reported in 5 compound heterozygous patients with F11 deficiency [reported as p.Glu117*, Type II mutation, ... (more)
Pathogenic
(Feb 21, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000700670.2
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (2)
Other databases
http://www.egl-eurofins.com/em...
Pathogenic
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary factor XI deficiency disease
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000893671.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Pathogenic
(Feb 01, 2019)
criteria provided, single submitter
Method: research
Hereditary factor XI deficiency disease
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Study: ThromboGenomics
Accession: SCV000899337.1
Submitted: (Mar 28, 2019)
Evidence details
Pathogenic
(Dec 21, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000947700.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Glu135*) in the F11 gene. It is expected to result in an absent or disrupted protein ... (more)
Pathogenic
(Jul 18, 1991)
no assertion criteria provided
Method: literature only
FACTOR XI DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000032901.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
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 Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. Mitchell M Human mutation 2006 PMID: 16835901
A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency. Bolton-Maggs PH Journal of thrombosis and haemostasis : JTH 2004 PMID: 15140127
Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. Kravtsov DV Blood 2004 PMID: 15026311
Identification of amino acids in the factor XI apple 3 domain required for activation of factor IX. Sun MF The Journal of biological chemistry 1999 PMID: 10593931
Factor XI deficiency in Ashkenazi Jews in Israel. Asakai R The New England journal of medicine 1991 PMID: 2052060
Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. Asakai R Proceedings of the National Academy of Sciences of the United States of America 1989 PMID: 2813350
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=F11 - - - -

Record last updated Oct 27, 2019