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NM_000128.4(F11):c.1465del (p.Thr489fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 9, 2017
Accession:
VCV001069881.1
Variation ID:
1069881
Description:
1bp deletion
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NM_000128.4(F11):c.1465del (p.Thr489fs)

Allele ID
1060015
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186285798 (GRCh38) GRCh38 UCSC
4: 187206952 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.187206952del
NC_000004.12:g.186285798del
NM_000128.4:c.1465del MANE Select NP_000119.1:p.Thr489fs frameshift
... more HGVS
Protein change
T489fs
Other names
-
Canonical SPDI
NC_000004.12:186285797:A:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 9, 2017 RCV001381848.1
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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
Pathogenic
(Nov 09, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001580403.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Thr489Glnfs*2) 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
Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation. Kılıç SÇ Blood transfusion = Trasfusione del sangue 2014 PMID: 25074526
Congenital factor XI deficiency: an update. Duga S Seminars in thrombosis and hemostasis 2013 PMID: 23929304
A classification system for cross-reactive material-negative factor XI deficiency. Kravtsov DV Blood 2005 PMID: 15728123

Record last updated May 13, 2021