NM_001159699.2(FHL1):c.737-18del AND not specified

Germline classification:: Benign (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:: RCV001699943.2

Allele description [Variation Report for NM_001159699.2(FHL1):c.737-18del]

NM_001159699.2(FHL1):c.737-18del

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.737-18del

HGVS:

NC_000023.11:g.136209853del
NG_015895.1:g.67454del
NM_001159699.2:c.737-18delMANE SELECT
NM_001159700.2:c.689-18del
NM_001159701.2:c.776-18del
NM_001159702.3:c.889-18del
NM_001159703.2:c.502-18del
NM_001159704.1:c.689-18del
NM_001167819.1:c.689-18del
NM_001330659.2:c.550-18del
NM_001369326.1:c.889-18del
NM_001369327.2:c.889-18del
NM_001369328.1:c.889-18del
NM_001369329.1:c.689-18del
NM_001369330.1:c.689-18del
NM_001369331.1:c.689-18del
NM_001449.5:c.689-18del
LRG_739t1:c.737-18del
LRG_739t2:c.889-18del
LRG_739:g.67454del
NC_000023.10:g.135292012del

Links:

dbSNP: rs776759929

NCBI 1000 Genomes Browser:

rs776759929

Molecular consequence:

NM_001159699.2:c.737-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001159700.2:c.689-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001159701.2:c.776-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001159702.3:c.889-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001159703.2:c.502-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001159704.1:c.689-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001167819.1:c.689-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001330659.2:c.550-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369326.1:c.889-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369327.2:c.889-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369328.1:c.889-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369329.1:c.689-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369330.1:c.689-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369331.1:c.689-18del - intron variant - [Sequence Ontology: SO:0001627]
NM_001449.5:c.689-18del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001925328	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001925328

Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001925328.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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