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NM_000128.3(F11):c.901T>C (p.Phe301Leu)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Mar 28, 2019)
Last evaluated:
Feb 1, 2019
Accession:
VCV000011892.5
Variation ID:
11892
Description:
single nucleotide variant
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NM_000128.3(F11):c.901T>C (p.Phe301Leu)

Allele ID
26931
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186280258 (GRCh38) GRCh38 UCSC
4: 187201412 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.187201412T>C
NC_000004.12:g.186280258T>C
NM_000128.3:c.901T>C NP_000119.1:p.Phe301Leu missense
... more HGVS
Protein change
F283L
Other names
F11, PHE283LEU
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00114
Trans-Omics for Precision Medicine (TOPMed) 0.00059
Exome Aggregation Consortium (ExAC) 0.00082
The Genome Aggregation Database (gnomAD) 0.00032
Links
ClinGen: CA121748
UniProtKB: P03951#VAR_006622
OMIM: 264900.0003
dbSNP: rs121965064
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 5 criteria provided, multiple submitters, no conflicts Feb 1, 2019 RCV000012667.20
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jan 6, 2019 RCV000727626.2
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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
(Mar 14, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary factor XI deficiency disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000448988.3
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (5)
Comment:
The F11 c.901T>C (p.Phe301Leu) variant has been reported in at least four studies in seven individuals in a homozygous state, ten individuals in a compound ... (more)
Pathogenic
(Oct 23, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary factor XI deficiency disease
Allele origin: unknown
Counsyl
Accession: SCV000678065.1
Submitted: (Jun 22, 2017)
Evidence details
Publications
PubMed (4)
Pathogenic
(Apr 18, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000854901.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
Likely pathogenic
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary factor XI deficiency disease
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000893673.1
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: SCV000899373.1
Submitted: (Mar 28, 2019)
Evidence details
Pathogenic
(Jan 06, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000949022.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (7)
Comment:
This sequence change replaces phenylalanine with leucine at codon 301 of the F11 protein (p.Phe301Leu). The phenylalanine residue is highly conserved and there is a ... (more)
Pathogenic
(Mar 15, 1992)
no assertion criteria provided
Method: literature only
FACTOR XI DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000032902.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (3)

Citations for this variant

Title Author Journal Year Link
In vitro comparison of the effect of two factor XI (FXI) concentrates on thrombin generation in major FXI deficiency. Pike GN Haemophilia : the official journal of the World Federation of Hemophilia 2016 PMID: 26558335
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
Congenital factor XI deficiency: an update. Duga S Seminars in thrombosis and hemostasis 2013 PMID: 23929304
Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency. Saunders RE Thrombosis and haemostasis 2009 PMID: 19652879
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. Mitchell M Human mutation 2006 PMID: 16835901
Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. Kravtsov DV Blood 2004 PMID: 15026311
Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. Meijers JC Blood 1992 PMID: 1547342
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