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NM_000130.4(F5):c.2539del (p.Ile847fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Feb 1, 2019
Accession:
VCV000627287.1
Variation ID:
627287
Description:
1bp deletion
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NM_000130.4(F5):c.2539del (p.Ile847fs)

Allele ID
615281
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1q24.2
Genomic location
1: 169542551 (GRCh38) GRCh38 UCSC
1: 169511789 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.169511789del
NC_000001.11:g.169542551del
NM_000130.4:c.2539del NP_000121.2:p.Ile847fs frameshift
... more HGVS
Protein change
I847fs
Other names
-
Canonical SPDI
NC_000001.11:169542550:T:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1571575520
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 Feb 1, 2019 RCV000852092.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F5 - - GRCh38
GRCh37
417 439

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 01, 2019)
criteria provided, single submitter
Method: research
Factor V deficiency
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Study: ThromboGenomics
Accession: SCV000899633.1
Submitted: (Mar 28, 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
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Downes K Blood 2019 PMID: 31064749

Text-mined citations for rs1571575520...

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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 Apr 08, 2021