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NM_000128.3(F11):c.1136-7_1136-4del

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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:
Sep 6, 2019
Accession:
VCV000555987.4
Variation ID:
555987
Description:
4bp deletion
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NM_000128.3(F11):c.1136-7_1136-4del

Allele ID
543105
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
4q35.2
Genomic location
4: 186284085-186284088 (GRCh38) GRCh38 UCSC
4: 187205239-187205242 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_583t1:c.1136-7_1136-4del
NM_000128.3:c.1136-7_1136-4delGTTG
LRG_583:g.23122_23125del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:186284084:GTTG:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs1439195599
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 Jan 5, 2018 RCV000671916.1
Pathogenic 1 criteria provided, single submitter Sep 6, 2019 RCV000796225.3
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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
(Jan 05, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary factor XI deficiency disease
Allele origin: unknown
Counsyl
Accession: SCV000796950.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (3)
Pathogenic
(Sep 06, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000935730.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change falls in intron 10 of the F11 gene. It does not directly change the encoded amino acid sequence of the F11 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
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China. Shao Y Blood cells, molecules & diseases 2016 PMID: 27067486
Genetic analysis in Factor XI deficient patients from central China: identification of one novel and seven recurrent mutations. Liu H Gene 2015 PMID: 25681615
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
[The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg]. Xie S Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2005 PMID: 15946525
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Text-mined citations for rs1439195599...

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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