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NM_000128.4(F11):c.595+3A>G

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
Mar 26, 2021
Accession:
VCV000809713.9
Variation ID:
809713
Description:
single nucleotide variant
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NM_000128.4(F11):c.595+3A>G

Allele ID
795571
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186275899 (GRCh38) GRCh38 UCSC
4: 187197053 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.187197053A>G
NC_000004.12:g.186275899A>G
NG_008051.1:g.14936A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:186275898:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00003
Links
dbSNP: rs933333847
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Mar 26, 2021 RCV000998331.5
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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
268 510

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 10, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001382933.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (8)
Comment:
This sequence change falls in intron 6 of the F11 gene. It does not directly change the encoded amino acid sequence of the F11 protein, … (more)
Likely pathogenic
(Mar 26, 2021)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001715849.1
Submitted: (May 26, 2021)
Evidence details
Publications
PubMed (7)
Comment:
PM2, PP5, PS3, PS4_moderate
Likely pathogenic
(Jun 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001154338.7
Submitted: (Jul 04, 2021)
Evidence details

Functional evidence

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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 this variant

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Title Author Journal Year Link
Molecular investigation of 41 patients affected by coagulation factor XI deficiency. Rimoldi V Haemophilia : the official journal of the World Federation of Hemophilia 2018 PMID: 29178608
Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France). Guéguen P Thrombosis and haemostasis 2012 PMID: 22159456
Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect. Guella I Thrombosis and haemostasis 2008 PMID: 18327400
Characterization of seven novel mutations causing factor XI deficiency. Zucker M Haematologica 2007 PMID: 18024374
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. Mitchell M Human mutation 2006 PMID: 16835901
Coagulation factor XI gene analysis in three factor XI deficient Austrian patients. Dossenbach-Glaninger A European journal of haematology 2006 PMID: 16519703
Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. Zivelin A Blood 2002 PMID: 11895778
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Text-mined citations for rs933333847...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 07, 2021