ClinVar Genomic variation as it relates to human health
NM_000128.4(F11):c.403G>T (p.Glu135Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000128.4(F11):c.403G>T (p.Glu135Ter)
Variation ID: 11891 Accession: VCV000011891.67
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 4q35.2 4: 186274193 (GRCh38) [ NCBI UCSC ] 4: 187195347 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jul 5, 2015 Oct 8, 2024 Aug 16, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000128.4:c.403G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000119.1:p.Glu135Ter nonsense NM_001354804.2:c.403G>T NP_001341733.1:p.Glu135Ter nonsense NC_000004.12:g.186274193G>T NC_000004.11:g.187195347G>T NG_008051.1:g.13230G>T LRG_583:g.13230G>T LRG_583t1:c.403G>T LRG_583p1:p.Glu135Ter - Protein change
- E135*
- Other names
- F11, GLU117TER
- E117*
- E117X
- p.Glu135*
- Canonical SPDI
- NC_000004.12:186274192:G:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00057
The Genome Aggregation Database (gnomAD) 0.00066
Exome Aggregation Consortium (ExAC) 0.00078
The Genome Aggregation Database (gnomAD), exomes 0.00093
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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F11 | - | - |
GRCh38 GRCh37 |
494 | 810 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (14) |
criteria provided, multiple submitters, no conflicts
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Mar 29, 2024 | RCV000012666.50 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Aug 16, 2024 | RCV000311271.39 | |
Pathogenic (1) |
no assertion criteria provided
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May 1, 2020 | RCV001270535.2 | |
Pathogenic (1) |
criteria provided, single submitter
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May 6, 2024 | RCV001266322.4 | |
Plasma factor XI deficiency
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Pathogenic (1) |
no assertion criteria provided
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Sep 16, 2020 | RCV001273717.2 |
F11-related disorder
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Pathogenic (1) |
no assertion criteria provided
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Aug 26, 2024 | RCV003914828.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Oct 26, 2015)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary factor XI deficiency disease
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000678061.1
First in ClinVar: Jan 06, 2018 Last updated: Jan 06, 2018 |
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Pathogenic
(Feb 01, 2019)
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criteria provided, single submitter
Method: research
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Hereditary factor XI deficiency disease
Affected status: yes
Allele origin:
unknown
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NIHR Bioresource Rare Diseases, University of Cambridge
Study: ThromboGenomics
Accession: SCV000899337.1 First in ClinVar: Sep 29, 2019 Last updated: Sep 29, 2019 |
Observation 1: Observation 2:
Ethnicity/Population group: European
Observation 3:
Sex: male
Ethnicity/Population group: European
Observation 4:
Sex: female
Ethnicity/Population group: European
Observation 5:
Sex: male
Ethnicity/Population group: European
Observation 6:
Sex: male
Ethnicity/Population group: European
Observation 7:
Sex: female
Ethnicity/Population group: European
Observation 8:
Sex: male
Ethnicity/Population group: European
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Pathogenic
(Mar 31, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary factor XI deficiency disease
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV001365779.1
First in ClinVar: Jul 04, 2020 Last updated: Jul 04, 2020 |
Comment:
The p.Glu135X (also known as p.Glu117X) variant in F11 has been reported in in the homozygous or compound heterozygous state in >40 individuals with factor … (more)
The p.Glu135X (also known as p.Glu117X) variant in F11 has been reported in in the homozygous or compound heterozygous state in >40 individuals with factor XI deficiency and is a founder mutation in the Ashkenazi Jewish population (Asakai 1991, Bolton-Maggs 2004, Mitchell 2006). This variant has also been reported in ClinVar (Variation ID 11891) and has been identified in 1.7% (177/10364) of Ashkenazi Jewish chromosomes by gnomAD, including 3 homozygotes (http://gnomad.broadinstitute.org). However, this frequency is consistent with a recessive carrier frequency for a known founder variant. Functional studies support an impact on protein function (Asakai 1991). This nonsense variant leads to a premature termination codon at position 135, which is predicted to lead to a truncated or absent protein. Loss of function of the F11 gene is an established disease mechanism in autosomal recessive factor XI deficiency. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive factor XI deficiency. ACMG/AMP criteria applied: PVS1, PM3_VeryStrong, PP1, PS3_Supporting. (less)
Number of individuals with the variant: 1
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Pathogenic
(Feb 06, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV004243179.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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Pathogenic
(Jan 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000947700.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
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)
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 product. Loss-of-function variants in F11 are known to be pathogenic (PMID: 23929304). This variant is present in population databases (rs121965063, gnomAD 1.8%), and has an allele count higher than expected for a pathogenic variant. This premature translational stop signal has been observed in individuals with Factor XI deficiency (PMID: 2813350, 15026311). This variant is also known as p.Glu117Stop. ClinVar contains an entry for this variant (Variation ID: 11891). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jun 14, 2016)
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criteria provided, single submitter
Method: clinical testing
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Factor XI Deficiency
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000448983.2
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
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)
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 variant has been reported in three studies and is found in a total of 28 factor XI deficiency patients including seven homozygotes, eight compound heterozygotes, and 13 heterozygotes (Asakai et al. 1989; Bolton-Maggs et al. 2004; Mitchell et al. 2006). Control data are unavailable for this variant, which is reported at a frequency of 0.00128 in the European (Non-Finnish) population of the Exome Aggregation Consortium. Based on the potential impact of stop-gained variants and the evidence from the literature, the p.Glu135Ter variant is classified as pathogenic for factor XI deficiency. (less)
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Pathogenic
(Jun 05, 2017)
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criteria provided, single submitter
Method: clinical testing
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Hereditary factor XI deficiency disease
Affected status: unknown
Allele origin:
germline
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV000839954.1
First in ClinVar: Jan 06, 2018 Last updated: Jan 06, 2018 |
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)
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, in PMID 2813350]. The patients had none to moderate bleeding symptoms. This variant was also reported in 3 homozygous and 3 compound heterozygous patients of Jewish descent with F11 deficiency [PMID 15140127]. This c.403G>T variant encodes for a nonsense codon in exon 5 and creates a stop codon at amino acid position 135 of the F11 protein. This variant has been detected in 95 heterozygous and one homozygous individuals in the ExAC population database (http://exac.broadinstitute.org/variant/4-187195347-G-T). This variant is thus classified as pathogenic. <BR>Apparent homozygosity of this variant may be caused by the presence of the mutant allele on both alleles of this individual, or the presence of a mutant allele on one allele and an exonic deletion on the opposite allele. Copy number variant (CNV) analysis or segregation analysis is necessary to assess the apparent homozygosity status of this variant. (less)
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Pathogenic
(Feb 21, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000700670.2
First in ClinVar: Jan 06, 2018 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 1
Sex: mixed
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Pathogenic
(May 04, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary factor XI deficiency disease
Affected status: unknown
Allele origin:
germline
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Mendelics
Accession: SCV002519640.1
First in ClinVar: May 28, 2022 Last updated: May 28, 2022 |
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Pathogenic
(Aug 04, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary factor XI deficiency disease
Affected status: unknown
Allele origin:
germline
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Johns Hopkins Genomics, Johns Hopkins University
Accession: SCV002570361.1
First in ClinVar: Sep 17, 2022 Last updated: Sep 17, 2022 |
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Pathogenic
(Apr 11, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary factor XI deficiency disease
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000893671.2
First in ClinVar: Mar 31, 2019 Last updated: Dec 31, 2022 |
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Hereditary factor XI deficiency disease
Affected status: yes
Allele origin:
germline
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ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
Accession: SCV002500851.2
First in ClinVar: Apr 23, 2022 Last updated: Jul 22, 2023
Comment:
Submitted to the GoldVariant database by Kathleen Freson, Center for Molecular and Vascular Biology
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Clinical Features:
bleeding (present)
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Pathogenic
(Dec 28, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: unknown
Allele origin:
germline
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV004227501.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
PP5, PM3, PS4_moderate, PVS1
Number of individuals with the variant: 4
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Pathogenic
(Jul 13, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary factor XI deficiency disease
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002022262.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Mar 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary factor XI deficiency disease
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004807525.1
First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024 |
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Pathogenic
(May 06, 2024)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV001444495.3
First in ClinVar: Nov 21, 2020 Last updated: Aug 11, 2024 |
Comment:
The c.403G>T (p.E135*) alteration, located in exon 5 (coding exon 4) of the F11 gene, consists of a G to T substitution at nucleotide position … (more)
The c.403G>T (p.E135*) alteration, located in exon 5 (coding exon 4) of the F11 gene, consists of a G to T substitution at nucleotide position 403. This changes the amino acid from a glutamic acid (E) to a stop codon at amino acid position 135. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of 0.086% (244/282694) total alleles studied. The highest observed frequency was 1.708% (177/10364) of Ashkenazi Jewish alleles. This alteration, previously reported as p.E117* in the literature, is common in Ashkenazi Jewish patients with factor XI deficiency, accounting for approximately 49% of disease alleles (Asakai, 1991). Additionally, this variant has been reported as heterozygous and homozygous in individuals with a personal and/or family history of a factor XI deficiency, as well as in asymptomatic individuals (Bolton-Maggs, 2004; Mitchell, 2006; Kawankar, 2016; Tiscia, 2017). Based on the available evidence, this alteration is classified as pathogenic. (less)
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Pathogenic
(Aug 16, 2024)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000330013.11
First in ClinVar: Dec 06, 2016 Last updated: Sep 29, 2024 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Published … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Published functional studies demonstrate that cells transfected with a vector containing the E135X variant do not generate protein (PMID: 15026311); This variant is associated with the following publications: (PMID: 25333069, 22975760, 27723456, 15140127, 30431218, 29467123, 31064749, 33527515, 30712878, 29138690, 26558335, 16835901, 29178608, 31364091, 31447099, 31624327, 32935436, 31589614, 32581362, 31345219, 2813350, 15026311, 37647632, 36964972) (less)
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Pathogenic
(Sep 01, 2023)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001500791.22
First in ClinVar: Mar 14, 2021 Last updated: Oct 08, 2024 |
Comment:
F11: PVS1, PM2, PM3, PS4:Supporting
Number of individuals with the variant: 6
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Pathogenic
(Jul 18, 1991)
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no assertion criteria provided
Method: literature only
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FACTOR XI DEFICIENCY
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000032901.2
First in ClinVar: Apr 04, 2013 Last updated: Jul 05, 2015 |
Comment on evidence:
In 4 Ashkenazi Jewish patients with factor XI deficiency (612416), Asakai et al. (1989) identified compound heterozygosity for 2 mutations in the F11 gene: a … (more)
In 4 Ashkenazi Jewish patients with factor XI deficiency (612416), Asakai et al. (1989) identified compound heterozygosity for 2 mutations in the F11 gene: a G-to-T transversion in exon 5, resulting in a glu117-to-ter (E117X) substitution, and a T-to-C transition in exon 9, resulting in a phe283-to-leu substitution (F283L; 264900.0003). In another Ashkenazi Jewish patient, they identified compound heterozygosity for the E117X mutation and a splice site mutation (264900.0001). This variant is found in Iraqi Jews, among whom factor XI deficiency is rare. Asakai et al. (1991) found this mutation in 49% of 86 alleles examined from Ashkenazi Jews in Israel. (less)
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Pathogenic
(Aug 26, 2024)
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no assertion criteria provided
Method: clinical testing
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F11-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004736337.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
The F11 c.403G>T variant is predicted to result in premature protein termination (p.Glu135*). This variant, referred to as Type II Mutation and p.Glu117* using legacy … (more)
The F11 c.403G>T variant is predicted to result in premature protein termination (p.Glu135*). This variant, referred to as Type II Mutation and p.Glu117* using legacy nomenclature, is found frequently in Ashkenazi Jewish populations and has been reported previously to be causative for Hemophilia C (Asakai et al. 1991. PubMed ID: 2052060; Asakai et al. 1989. PubMed ID: 2813350; Kravtsov et al. 2004. PubMed ID: 15026311). Factor XI deficiency is primarily an autosomal recessive disorder. Clinical presentation varies from asymptomatic to mild bleeding in patients heterozygous for the c.403G>T (p.Glu135*) variant (Gomez and Bolton-Maggs. 2008. PubMed ID: 18312365). Nonsense variants in F11 are expected to be pathogenic. This variant is interpreted as pathogenic. (less)
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Pathogenic
(Jan 06, 2020)
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no assertion criteria provided
Method: curation
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Hereditary factor XI deficiency disease
Affected status: unknown
Allele origin:
germline
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Reproductive Health Research and Development, BGI Genomics
Accession: SCV001142342.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
Comment:
NM_000128.3:c.403G>T in the F11 gene has an allele frequency of 0.017 in Ashkenazi Jewish subpopulation in the gnomAD database. The c.403G>T (p.Glu135Ter) stop-gained variant is … (more)
NM_000128.3:c.403G>T in the F11 gene has an allele frequency of 0.017 in Ashkenazi Jewish subpopulation in the gnomAD database. 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 variant has been reported in factor XI deficiency patients, compound heterozygotes with p.Q251X and p.F301L (also known as F283L) (PMID: 15140127; 16835901). Taken together, we interprete this variant as Pathogenic/Likely pathogenic variant. ACMG/AMP Criteria applied: PVS1; PM3; PP4. (less)
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Pathogenic
(May 01, 2020)
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no assertion criteria provided
Method: research
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Thrombocytopenia
Abnormal bleeding
Affected status: yes
Allele origin:
germline
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Birmingham Platelet Group; University of Birmingham
Accession: SCV001450834.1
First in ClinVar: Dec 19, 2020 Last updated: Dec 19, 2020 |
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Plasma factor XI deficiency
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV001457099.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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Pathogenic
(Oct 30, 2023)
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no assertion criteria provided
Method: clinical testing
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Hereditary factor XI deficiency disease
Affected status: yes
Allele origin:
germline
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
Accession: SCV004099401.1
First in ClinVar: Nov 04, 2023 Last updated: Nov 04, 2023 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. | Downes K | Blood | 2019 | PMID: 31064749 |
Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novel mutation and genotype-phenotype relationship. | Tiscia GL | Human genome variation | 2017 | PMID: 29138690 |
Clinical and molecular epidemiology of factor XI deficiency in India. | Kawankar N | Thrombosis research | 2016 | PMID: 27710856 |
Congenital factor XI deficiency: an update. | Duga S | Seminars in thrombosis and hemostasis | 2013 | PMID: 23929304 |
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 |
The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin. | Peretz H | Blood | 1997 | PMID: 9326232 |
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 | - | - | - | - |
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Text-mined citations for rs121965063 ...
HelpRecord last updated Oct 13, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.