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NM_000527.5(LDLR):c.313_313+1del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 14, 2022
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:
RCV002469073.1

Allele description [Variation Report for NM_000527.5(LDLR):c.313_313+1del]

NM_000527.5(LDLR):c.313_313+1del

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.313_313+1del
Other names:
FH Lille
HGVS:
  • NC_000019.10:g.11102786_11102787del
  • NG_009060.1:g.18406_18407del
  • NM_000527.4(LDLR):c.313_313+1delCG
  • NM_000527.5:c.313_313+1delMANE SELECT
  • NM_001195798.2:c.313_313+1del
  • NM_001195799.2:c.191-2434_191-2433del
  • NM_001195800.2:c.313_313+1del
  • NM_001195803.2:c.313_313+1del
  • LRG_274t1:c.313_313+1del
  • LRG_274:g.18406_18407del
  • NC_000019.10:g.11102786_11102787delCG
  • NC_000019.9:g.11213462_11213463del
  • NM_000527.4(LDLR):c.313_313+1delCG
  • NM_000527.4:c.313_313+1del
  • NM_000527.4:c.313_313+1delCG
  • NM_000527.5:c.313_313+1del
  • c.313_313+1del
  • p.Lys107Argfs*99
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001692; dbSNP: rs875989896
NCBI 1000 Genomes Browser:
rs875989896
Molecular consequence:
  • NM_001195799.2:c.191-2434_191-2433del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.313_313+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001195798.2:c.313_313+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001195800.2:c.313_313+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001195803.2:c.313_313+1del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002765862GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jun 14, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002765862.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies suggest a damaging effect as cell cultures from a homozygous patient show 2-5% residual LDL receptor activity (Hobbs et al., 1992); Canonical splice site variant expected to result in aberrant splicing; Deletions involving coding exons of this gene are a known mechanism of disease (HGMD); Also known as FH Lille; This variant is associated with the following publications: (PMID: 1301956, 33087929, 22883975)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025