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NM_000527.5(LDLR):c.1587_1591del (p.Phe530fs) AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic (1 submission)
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:
RCV000238531.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1587_1591del (p.Phe530fs)]

NM_000527.5(LDLR):c.1587_1591del (p.Phe530fs)

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.1587_1591del (p.Phe530fs)
HGVS:
  • NC_000019.10:g.11116094_11116098del
  • NG_009060.1:g.31714_31718del
  • NM_000527.5:c.1587_1591delMANE SELECT
  • NM_001195798.2:c.1587_1591del
  • NM_001195799.2:c.1464_1468del
  • NM_001195800.2:c.1083_1087del
  • NM_001195803.2:c.1206_1210del
  • NP_000518.1:p.Phe530fs
  • NP_001182727.1:p.Phe530fs
  • NP_001182728.1:p.Phe489fs
  • NP_001182729.1:p.Phe362fs
  • NP_001182732.1:p.Phe403fs
  • LRG_274:g.31714_31718del
  • NC_000019.9:g.11226770_11226774del
  • c.1587_1591del
Protein change:
F362fs
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001465; dbSNP: rs879254949
NCBI 1000 Genomes Browser:
rs879254949
Molecular consequence:
  • NM_000527.5:c.1587_1591del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.1587_1591del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.1464_1468del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.1083_1087del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.1206_1210del - 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
SCV000295526LDLR-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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedliterature only

Citations

PubMed

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

Alonso R, Defesche JC, Tejedor D, Castillo S, Stef M, Mata N, Gomez-Enterria P, Martinez-Faedo C, Forga L, Mata P.

Clin Biochem. 2009 Jun;42(9):899-903. doi: 10.1016/j.clinbiochem.2009.01.017. Epub 2009 Feb 6.

PubMed [citation]
PMID:
19318025

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295526.2

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

Last Updated: Aug 5, 2023