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NM_000130.5(F5):c.911G>A (p.Gly304Glu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Feb 1, 2019
Accession:
VCV000627404.1
Variation ID:
627404
Description:
single nucleotide variant
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NM_000130.5(F5):c.911G>A (p.Gly304Glu)

Allele ID
615288
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q24.2
Genomic location
1: 169556687 (GRCh38) GRCh38 UCSC
1: 169525925 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_553:g.34845G>A
LRG_553t1:c.911G>A LRG_553p1:p.Gly304Glu
NC_000001.10:g.169525925C>T
... more HGVS
Protein change
G304E
Other names
-
Canonical SPDI
NC_000001.11:169556686:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
dbSNP: rs865947251
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 1, 2019 RCV000852245.1
Likely pathogenic 1 criteria provided, single submitter Feb 1, 2019 RCV000852244.1
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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
Uncertain significance
(Feb 01, 2019)
criteria provided, single submitter
Method: research
Thromboembolism
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Study: ThromboGenomics
Accession: SCV000899984.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
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: SCV000899983.1
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 rs865947251...

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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 24, 2021