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NM_002017.5(FLI1):c.970C>T (p.Arg324Trp)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Apr 25, 2017)
Last evaluated:
Jan 21, 2015
Accession:
VCV000217031.1
Variation ID:
217031
Description:
single nucleotide variant
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NM_002017.5(FLI1):c.970C>T (p.Arg324Trp)

Allele ID
213674
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q24.3
Genomic location
11: 128810599 (GRCh38) GRCh38 UCSC
11: 128680494 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_646:g.129065C>T
LRG_646t4:c.970C>T LRG_646p4:p.Arg324Trp
NC_000011.10:g.128810599C>T
... more HGVS
Protein change
R131W, R258W, R291W, R324W
Other names
-
Canonical SPDI
NC_000011.10:128810598:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA210013
OMIM: 193067.0006
dbSNP: rs773148506
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 Jan 21, 2015 RCV000197145.1
Pathogenic 1 no assertion criteria provided Aug 27, 2015 RCV000487463.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FLI1 - - GRCh38
GRCh37
72 169

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 21, 2015)
criteria provided, single submitter
Method: clinical testing
Bleeding disorder platelet type macrothrombocytopenia
Allele origin: inherited
Northern Blood Research Centre, University of Sydney
Study: NextGen of Inherited platelet disorders
Accession: SCV000255511.1
Submitted: (Sep 22, 2015)
Evidence details
Publications
PubMed (1)
Comment:
Autosomal recessive
Pathogenic
(Aug 27, 2015)
no assertion criteria provided
Method: literature only
BLEEDING DISORDER, PLATELET-TYPE, 21, AUTOSOMAL RECESSIVE
Allele origin: germline
OMIM
Accession: SCV000574552.1
Submitted: (Apr 25, 2017)
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
Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1. Stevenson WS Blood 2015 PMID: 26316623

Text-mined citations for rs773148506...

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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