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NM_000128.3(F11):c.908del (p.Gly303fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 27, 2020
Accession:
VCV000189129.3
Variation ID:
189129
Description:
1bp deletion
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NM_000128.3(F11):c.908del (p.Gly303fs)

Allele ID
186687
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186280263 (GRCh38) GRCh38 UCSC
4: 187201417 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_583:g.19302del
NC_000004.11:g.187201419del
NC_000004.12:g.186280265del
... more HGVS
Protein change
G303fs
Other names
-
Canonical SPDI
NC_000004.12:186280262:GGG:GG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA199127
dbSNP: rs786204722
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Jan 16, 2015 RCV000169545.2
Pathogenic 1 criteria provided, single submitter Aug 27, 2020 RCV001380983.1
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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
(Jan 16, 2015)
criteria provided, single submitter
Method: literature only
Hereditary factor XI deficiency disease
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000221036.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (2)
Pathogenic
(Aug 27, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001579226.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Gly303Glufs*46) in the F11 gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Hereditary factor XI deficiency disease
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001161819.1
Submitted: (Sep 13, 2019)
Evidence details
Publications
PubMed (1)

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
Whole-genome sequencing of patients with rare diseases in a national health system. Turro E Nature 2020 PMID: 32581362
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
The spectrum of factor XI deficiency in Italy. Castaman G Haemophilia : the official journal of the World Federation of Hemophilia 2014 PMID: 24112640
Congenital factor XI deficiency: an update. Duga S Seminars in thrombosis and hemostasis 2013 PMID: 23929304
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

Text-mined citations for rs786204722...

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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