NM_003383.5(VLDLR):c.1066+215_1066+216dup AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 24, 2019
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:: RCV001583048.3

Allele description [Variation Report for NM_003383.5(VLDLR):c.1066+215_1066+216dup]

NM_003383.5(VLDLR):c.1066+215_1066+216dup

Gene:

VLDLR:very low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

9p24.2

Genomic location:

Preferred name:

NM_003383.5(VLDLR):c.1066+215_1066+216dup

HGVS:

NC_000009.12:g.2644174_2644175dup
NG_012741.1:g.27382_27383dup
NM_001018056.3:c.1066+215_1066+216dup
NM_001322225.2:c.943+215_943+216dup
NM_001322226.2:c.943+215_943+216dup
NM_003383.5:c.1066+215_1066+216dupMANE SELECT
NC_000009.11:g.2644174_2644175dup

Links:

dbSNP: rs59793046

NCBI 1000 Genomes Browser:

rs59793046

Molecular consequence:

NM_001018056.3:c.1066+215_1066+216dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001322225.2:c.943+215_943+216dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001322226.2:c.943+215_943+216dup - intron variant - [Sequence Ontology: SO:0001627]
NM_003383.5:c.1066+215_1066+216dup - 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
SCV001813479	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Dec 24, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001813479

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Dec 24, 2019)

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, SCV001813479.1

#	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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