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NM_000128.4(F11):c.449_450del (p.Thr150fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 17, 2020
Accession:
VCV000835116.2
Variation ID:
835116
Description:
2bp deletion
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NM_000128.4(F11):c.449_450del (p.Thr150fs)

Allele ID
829029
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
4q35.2
Genomic location
4: 186274239-186274240 (GRCh38) GRCh38 UCSC
4: 187195393-187195394 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.187195393_187195394del
NC_000004.12:g.186274239_186274240del
NM_000128.4:c.449_450del MANE Select NP_000119.1:p.Thr150fs frameshift
... more HGVS
Protein change
T150fs
Other names
-
Canonical SPDI
NC_000004.12:186274238:CG:
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 Sep 17, 2020 RCV001035928.2
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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
Pathogenic
(Sep 17, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001199268.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Thr150Ilefs*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

Record last updated May 10, 2021