NM_006486.3(FBLN1):c.1441+209del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: May 18, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001617378.3

Allele description [Variation Report for NM_006486.3(FBLN1):c.1441+209del]

NM_006486.3(FBLN1):c.1441+209del

Gene:

FBLN1:fibulin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

22q13.31

Genomic location:

Preferred name:

NM_006486.3(FBLN1):c.1441+209del

HGVS:

NC_000022.11:g.45547413del
NG_023308.2:g.49575del
NM_001996.4:c.1441+209del
NM_006485.4:c.1441+209del
NM_006486.3:c.1441+209delMANE SELECT
NM_006487.3:c.1441+209del
NC_000022.10:g.45943293del

Links:

dbSNP: rs5845717

NCBI 1000 Genomes Browser:

rs5845717

Molecular consequence:

NM_001996.4:c.1441+209del - intron variant - [Sequence Ontology: SO:0001627]
NM_006485.4:c.1441+209del - intron variant - [Sequence Ontology: SO:0001627]
NM_006486.3:c.1441+209del - intron variant - [Sequence Ontology: SO:0001627]
NM_006487.3:c.1441+209del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001846775	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (May 18, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001846775

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(May 18, 2021)

germline

clinical testing

Citation Link

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 GeneDx, SCV001846775.1

#	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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