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NM_000128.3(F11):c.1075del (p.Ile359fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 5, 2020
Accession:
VCV000188727.2
Variation ID:
188727
Description:
1bp deletion
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NM_000128.3(F11):c.1075del (p.Ile359fs)

Allele ID
186689
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186280517 (GRCh38) GRCh38 UCSC
4: 187201671 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_583t1:c.1075del LRG_583p1:p.Ile359fs
NC_000004.11:g.187201674del
NC_000004.12:g.186280520del
... more HGVS
Protein change
I359fs
Other names
-
Canonical SPDI
NC_000004.12:186280516:AAAA:AAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA199045
dbSNP: rs786204429
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 18, 2014 RCV000169028.1
Pathogenic 1 criteria provided, single submitter Mar 5, 2020 RCV001380984.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Mar 18, 2014)
criteria provided, single submitter
Method: literature only
Hereditary factor XI deficiency disease
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220177.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (2)
Pathogenic
(Mar 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001579227.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Ile359Tyrfs*13) in the F11 gene. It is expected to result in an absent or disrupted protein … (more)

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
Congenital factor XI deficiency: an update. Duga S Seminars in thrombosis and hemostasis 2013 PMID: 23929304
Characterization of seven novel mutations causing factor XI deficiency. Zucker M Haematologica 2007 PMID: 18024374
Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families. Ventura C Thrombosis and haemostasis 2000 PMID: 11127865

Text-mined citations for rs786204429...

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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 08, 2021