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NM_000128.3(F11):c.730C>T (p.Gln244Ter)

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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:
Feb 21, 2020
Accession:
VCV000189094.3
Variation ID:
189094
Description:
single nucleotide variant
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NM_000128.3(F11):c.730C>T (p.Gln244Ter)

Allele ID
186685
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186276365 (GRCh38) GRCh38 UCSC
4: 187197519 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_583t1:c.730C>T LRG_583p1:p.Gln244Ter
NC_000004.11:g.187197519C>T
NC_000004.12:g.186276365C>T
... more HGVS
Protein change
Q244*
Other names
-
Canonical SPDI
NC_000004.12:186276364:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA199116
dbSNP: rs747702749
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 Dec 18, 2014 RCV000169501.1
Pathogenic 1 criteria provided, single submitter Feb 21, 2020 RCV001248521.2
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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
268 510

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 18, 2014)
criteria provided, single submitter
Method: literature only
Hereditary factor XI deficiency disease
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220963.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (3)
Pathogenic
(Feb 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001422015.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Gln244*) 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
Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency. Choi SJ Annals of laboratory medicine 2014 PMID: 24982842
Congenital factor XI deficiency: an update. Duga S Seminars in thrombosis and hemostasis 2013 PMID: 23929304
Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. Kim J Clinical genetics 2012 PMID: 21668437
Recurrent mutations of factor XI gene in Japanese. Okumura K International journal of hematology 2006 PMID: 16787881

Text-mined citations for rs747702749...

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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