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NM_000527.5(LDLR):c.1530del (p.Leu511fs) AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 30, 2017
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:
RCV000495873.3

Allele description [Variation Report for NM_000527.5(LDLR):c.1530del (p.Leu511fs)]

NM_000527.5(LDLR):c.1530del (p.Leu511fs)

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.1530del (p.Leu511fs)
HGVS:
  • NC_000019.10:g.11113706del
  • NG_009060.1:g.29326del
  • NM_000527.5:c.1530delMANE SELECT
  • NM_001195798.2:c.1530del
  • NM_001195799.2:c.1407del
  • NM_001195800.2:c.1026del
  • NM_001195803.2:c.1149del
  • NP_000518.1:p.Leu511fs
  • NP_000518.1:p.Leu511fs
  • NP_001182727.1:p.Leu511fs
  • NP_001182728.1:p.Leu470fs
  • NP_001182729.1:p.Leu343fs
  • NP_001182732.1:p.Leu384fs
  • LRG_274t1:c.1530del
  • LRG_274:g.29326del
  • LRG_274p1:p.Leu511fs
  • NC_000019.9:g.11224382del
  • NM_000527.4:c.1530del
Protein change:
L343fs
Links:
dbSNP: rs1131692210
NCBI 1000 Genomes Browser:
rs1131692210
Molecular consequence:
  • NM_000527.5:c.1530del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.1530del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.1407del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.1026del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.1149del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000583843U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 30, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille, SCV000583843.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Dutch Lipid Clinic Scoring : Definite FH

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Jun 23, 2024