NM_000527.5(LDLR):c.1845+2del AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 27, 2023
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:: RCV003443959.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1845+2del]

NM_000527.5(LDLR):c.1845+2del

Gene:

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_000527.5(LDLR):c.1845+2del

HGVS:

NC_000019.10:g.11117000del
NG_009060.1:g.32620del
NM_000527.5:c.1845+2delMANE SELECT
NM_001195798.2:c.1845+2del
NM_001195799.2:c.1722+2del
NM_001195800.2:c.1341+2del
NM_001195803.2:c.1464+2del
LRG_274:g.32620del
NC_000019.10:g.11117000delT
NC_000019.9:g.11227676del

Molecular consequence:

NM_000527.5:c.1845+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001195798.2:c.1845+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001195799.2:c.1722+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001195800.2:c.1341+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001195803.2:c.1464+2del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV004170185	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 27, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004170185

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Apr 27, 2023)

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, SCV004170185.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 32044282)

#	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: May 7, 2024

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