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NM_001110556.2(FLNA):c.5989dup (p.Cys1997fs) AND Macrothrombocytopenia

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002245474.3

Allele description [Variation Report for NM_001110556.2(FLNA):c.5989dup (p.Cys1997fs)]

NM_001110556.2(FLNA):c.5989dup (p.Cys1997fs)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.5989dup (p.Cys1997fs)
HGVS:
  • NC_000023.11:g.154353329dup
  • NG_011506.2:g.26310dup
  • NM_001110556.2:c.5989dupMANE SELECT
  • NM_001456.4:c.5965dup
  • NP_001104026.1:p.Cys1997fs
  • NP_001447.2:p.Cys1989fs
  • LRG_1340t1:c.5989dup
  • LRG_1340:g.26310dup
  • LRG_1340p1:p.Cys1997fs
  • NC_000023.10:g.153581697dup
  • NM_001110556.1:c.5989dupT
Protein change:
C1989fs
Links:
dbSNP: rs2148105341
NCBI 1000 Genomes Browser:
rs2148105341
Molecular consequence:
  • NM_001110556.2:c.5989dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001456.4:c.5965dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Macrothrombocytopenia
Identifiers:
MedGen: C2751260; Human Phenotype Ontology: HP:0040185

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002515749ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
no assertion criteria provided
Likely pathogenicunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002515749.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024