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NM_000506.4(F2):c.1787G>T (p.Arg596Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Aug 30, 2016)
Last evaluated:
Aug 14, 2014
Accession:
VCV000031922.1
Variation ID:
31922
Description:
single nucleotide variant
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NM_000506.4(F2):c.1787G>T (p.Arg596Leu)

Allele ID
40578
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p11.2
Genomic location
11: 46739326 (GRCh38) GRCh38 UCSC
11: 46760876 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.46739326G>T
NC_000011.9:g.46760876G>T
LRG_551t1:c.1787G>T LRG_551p1:p.Arg596Leu
... more HGVS
Protein change
R596L
Other names
F2, ARG596LEU
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 176930.0015
dbSNP: rs387907201
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 no assertion criteria provided Aug 14, 2014 RCV000024607.28
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F2 - - GRCh38
GRCh37
46 58

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 21, 2012)
no assertion criteria provided
Method: literature only
THROMBOPHILIA DUE TO THROMBIN DEFECT
Allele origin: germline
OMIM
Accession: SCV000045916.2
Submitted: (Aug 30, 2016)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Aug 14, 2014)
no assertion criteria provided
Method: literature only
Thrombophilia
Allele origin: germline
GeneReviews
Accession: SCV000188584.2
Submitted: (Aug 21, 2014)
Evidence details

Citations for this variant

Title Author Journal Year Link
Prothrombin-Related Thrombophilia Kujovich JL - 2014 PMID: 20301327
Thrombosis from a prothrombin mutation conveying antithrombin resistance. Miyawaki Y The New England journal of medicine 2012 PMID: 22716977

Record last updated Jun 20, 2019