NM_001110556.2(FLNA):c.4750_4755+18del AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001091829.2

Allele description [Variation Report for NM_001110556.2(FLNA):c.4750_4755+18del]

NM_001110556.2(FLNA):c.4750_4755+18del

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.4750_4755+18del
HGVS:
  • NC_000023.11:g.154358182_154358205del
  • NG_011506.1:g.21435_21458del
  • NG_011506.2:g.21435_21458del
  • NM_001110556.2:c.4750_4755+18delMANE SELECT
  • NM_001456.3:c.4750_4755+18del
  • LRG_1340t1:c.4750_4755+18del
  • LRG_1340:g.21435_21458del
  • NC_000023.10:g.153586550_153586573del
  • NM_001110556.1:c.4750_4755+18del
Links:
Molecular consequence:
  • NM_001110556.2:c.4750_4755+18del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001456.3:c.4750_4755+18del - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001248062CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Aug 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001248062.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 6, 2021

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