NM_001159699.2(FHL1):c.737-3del AND not provided

Clinical significance:Benign (Last evaluated: Oct 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001651048.2

Allele description [Variation Report for NM_001159699.2(FHL1):c.737-3del]

NM_001159699.2(FHL1):c.737-3del

Gene:
FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq26.3
Genomic location:
Preferred name:
NM_001159699.2(FHL1):c.737-3del
HGVS:
  • NC_000023.11:g.136209868del
  • NG_015895.1:g.67469del
  • NM_001159699.2:c.737-3delMANE SELECT
  • NM_001159700.2:c.689-3del
  • NM_001159701.2:c.776-3del
  • NM_001159702.3:c.889-3del
  • NM_001159703.2:c.502-3del
  • NM_001159704.1:c.689-3del
  • NM_001167819.1:c.689-3del
  • NM_001330659.2:c.550-3del
  • NM_001369326.1:c.889-3del
  • NM_001369327.2:c.889-3del
  • NM_001369328.1:c.889-3del
  • NM_001369329.1:c.689-3del
  • NM_001369330.1:c.689-3del
  • NM_001369331.1:c.689-3del
  • NM_001449.5:c.689-3del
  • LRG_739t1:c.737-3del
  • LRG_739t2:c.889-3del
  • LRG_739:g.67469del
  • NC_000023.10:g.135292022del
  • NC_000023.10:g.135292027del
  • NM_001159702.2:c.889-3delC
  • NM_001159702.2:c.889-3delC
  • NM_001449.4:c.689-3del
  • NM_001449.4:c.689-3delC
  • NM_001449.4:c.689-3delC
Links:
dbSNP: rs368428875
NCBI 1000 Genomes Browser:
rs368428875
Molecular consequence:
  • NM_001159699.2:c.737-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001159700.2:c.689-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001159701.2:c.776-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001159702.3:c.889-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001159703.2:c.502-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001159704.1:c.689-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167819.1:c.689-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330659.2:c.550-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369326.1:c.889-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369327.2:c.889-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369328.1:c.889-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369329.1:c.689-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369330.1:c.689-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369331.1:c.689-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001449.5:c.689-3del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001866657GeneDxcriteria provided, single submitter
Benign
(Oct 25, 2016)
germlineclinical testing

Citation Link,

SCV001927571Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001866657.1

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001927571.1

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

Last Updated: Nov 6, 2021

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