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NM_000527.5(LDLR):c.148del (p.Ala50fs) AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 25, 2016
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:
RCV000237911.2

Allele description [Variation Report for NM_000527.5(LDLR):c.148del (p.Ala50fs)]

NM_000527.5(LDLR):c.148del (p.Ala50fs)

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.148del (p.Ala50fs)
HGVS:
  • NC_000019.10:g.11100303del
  • NG_009060.1:g.15923del
  • NM_000527.5:c.148delMANE SELECT
  • NM_001195798.2:c.148del
  • NM_001195799.2:c.148del
  • NM_001195800.2:c.148del
  • NM_001195803.2:c.148del
  • NP_000518.1:p.Ala50fs
  • NP_000518.1:p.Ala50fs
  • NP_001182727.1:p.Ala50fs
  • NP_001182728.1:p.Ala50fs
  • NP_001182729.1:p.Ala50fs
  • NP_001182732.1:p.Ala50fs
  • LRG_274t1:c.148del
  • LRG_274:g.15923del
  • LRG_274p1:p.Ala50fs
  • NC_000019.9:g.11210979del
  • NC_000019.9:g.11210979delG
  • NM_000527.4:c.148del
  • c.148delG
Protein change:
A50fs
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000781; dbSNP: rs879254417
NCBI 1000 Genomes Browser:
rs879254417
Molecular consequence:
  • NM_000527.5:c.148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.148del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hypercholesterolemia, familial, 1
Synonyms:
LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000294485LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

(ACGS Guidelines, 2013)		Pathogenic
(Mar 25, 2016) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV000606026Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum
no assertion criteria provided
Pathogenicgermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch
not providedgermlineyes1not providednot provided1not providedliterature only

Citations

PubMed

The molecular basis of familial hypercholesterolemia in The Netherlands.

Fouchier SW, Defesche JC, Umans-Eckenhausen MW, Kastelein JP.

Hum Genet. 2001 Dec;109(6):602-15. Epub 2001 Nov 9.

PubMed [citation]
PMID:
11810272

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294485.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum, SCV000606026.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023