NM_002017.5(FLI1):c.203G>T (p.Arg68Leu) AND Bleeding disorder, platelet-type, 21

Clinical significance:Uncertain significance (Last evaluated: Nov 24, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001269403.1

Allele description [Variation Report for NM_002017.5(FLI1):c.203G>T (p.Arg68Leu)]

NM_002017.5(FLI1):c.203G>T (p.Arg68Leu)

Gene:
FLI1:Fli-1 proto-oncogene, ETS transcription factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q24.3
Genomic location:
Preferred name:
NM_002017.5(FLI1):c.203G>T (p.Arg68Leu)
HGVS:
  • NC_000011.10:g.128758299G>T
  • NG_032912.1:g.76765G>T
  • NM_001167681.3:c.104G>T
  • NM_001271010.2:c.-167G>T
  • NM_001271012.2:c.-18G>T
  • NM_002017.5:c.203G>TMANE SELECT
  • NP_001161153.1:p.Arg35Leu
  • NP_002008.2:p.Arg68Leu
  • LRG_646t1:c.104G>T
  • LRG_646t2:c.-167G>T
  • LRG_646t3:c.-18G>T
  • LRG_646t4:c.203G>T
  • LRG_646:g.76765G>T
  • LRG_646p1:p.Arg35Leu
  • LRG_646p4:p.Arg68Leu
  • NC_000011.9:g.128628194G>T
  • NM_002017.4:c.203G>T
Protein change:
R35L
Molecular consequence:
  • NM_001271010.2:c.-167G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001271012.2:c.-18G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167681.3:c.104G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002017.5:c.203G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bleeding disorder, platelet-type, 21 (BDPLT21)
Identifiers:
MONDO: MONDO:0054577; MedGen: C4479515; OMIM: 617443

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001449478Johns Hopkins Genomics, Johns Hopkins Universitycriteria provided, single submitter
Uncertain significance
(Nov 24, 2020)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Eltrombopag for the Treatment of Severe Inherited Thrombocytopenia.

Abdelmoumen K, Fabre M, Ducastelle-Lepretre S, Favier R, Ballerini P, Bordet JC, Dargaud Y.

Acta Haematol. 2021;144(3):308-313. doi: 10.1159/000509922. Epub 2020 Sep 28.

PubMed [citation]
PMID:
32987389

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Johns Hopkins Genomics, Johns Hopkins University, SCV001449478.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant has been reported in a patient presenting with thrombocytopenia. FLI1 c.203G>T (rs201118331) is present in a large population dataset (gnomAD: 81/279110 total alleles; 0.03%; no homozygotes) and has not been reported in ClinVar. Of three bioinformatics tools queried, two predict that the substitution would be tolerated, while one predicts that it would be possibly damaging. The arginine residue at this position is highly evolutionarily conserved across all species assessed. We consider the clinical significance of c.203G>T to be uncertain at this time.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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