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NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer) AND LDLR-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 15, 2024
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:
RCV003897580.2

Allele description [Variation Report for NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer)]

NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer)
HGVS:
  • NC_000019.10:g.11105575_11105586dup
  • NG_009060.1:g.21195_21206dup
  • NM_000527.5:c.669_680dupMANE SELECT
  • NM_001195798.2:c.669_680dup
  • NM_001195799.2:c.546_557dup
  • NM_001195800.2:c.314-1817_314-1806dup
  • NM_001195803.2:c.314-990_314-979dup
  • NP_000518.1:p.Ser226_Asp227insGluAspLysSer
  • NP_001182727.1:p.Ser226_Asp227insGluAspLysSer
  • NP_001182728.1:p.Ser185_Asp186insGluAspLysSer
  • LRG_274:g.21195_21206dup
  • NC_000019.9:g.11216249_11216250insAGGACAAATCTG
  • NC_000019.9:g.11216251_11216262dup
  • NM_000527.4:c.669_680dupGGACAAATCTGA
  • c.669_680dup
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000101; dbSNP: rs879254626
NCBI 1000 Genomes Browser:
rs879254626
Molecular consequence:
  • NM_000527.5:c.669_680dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001195798.2:c.669_680dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001195799.2:c.546_557dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001195800.2:c.314-1817_314-1806dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-990_314-979dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
LDLR-related disorder
Synonyms:
LDLR-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004717848PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Jul 15, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004717848.2

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

Description

The LDLR c.669_680dup12 variant is predicted to result in an in-frame duplication (p.Ser226_Asp227insGluAspLysSer). This variant has been reported in multiple individuals with hypercholesterolemia (Bochmann et al. 2000. PubMed ID: 11139254; Chmara et al. 2010. PubMed ID: 20145306; Sturm et al. 2021. PubMed ID: 34037665. eTable 1). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as likely pathogenic.

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

Last Updated: Oct 20, 2024