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NM_000527.5(LDLR):c.1529del (p.Thr510fs) AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 30, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000417249.3

Allele description [Variation Report for NM_000527.5(LDLR):c.1529del (p.Thr510fs)]

NM_000527.5(LDLR):c.1529del (p.Thr510fs)

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.1529del (p.Thr510fs)
HGVS:
  • NC_000019.10:g.11113705del
  • NG_009060.1:g.29325del
  • NM_000527.5:c.1529delMANE SELECT
  • NM_001195798.2:c.1529del
  • NM_001195799.2:c.1406del
  • NM_001195800.2:c.1025del
  • NM_001195803.2:c.1148del
  • NP_000518.1:p.Thr510fs
  • NP_000518.1:p.Thr510fs
  • NP_001182727.1:p.Thr510fs
  • NP_001182728.1:p.Thr469fs
  • NP_001182729.1:p.Thr342fs
  • NP_001182732.1:p.Thr383fs
  • LRG_274t1:c.1529del
  • LRG_274:g.29325del
  • LRG_274p1:p.Thr510fs
  • NC_000019.9:g.11224381del
  • NM_000527.4:c.1529del
  • p.Thr510Serfs*38
Protein change:
T342fs
Links:
dbSNP: rs1057519673
NCBI 1000 Genomes Browser:
rs1057519673
Molecular consequence:
  • NM_000527.5:c.1529del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.1529del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.1406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.1025del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.1148del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
5

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
SCV000503361Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 16, 2016) 		germlineclinical testing

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

SCV000583842U4M - 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 providedgermlineyes75not provided2600not 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 Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix, SCV000503361.1

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

Description

subject mutated among 2600 FH index cases screened = 1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes2600not providednot provided1not providednot providednot provided

From U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille, SCV000583842.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testing PubMed (1)

Description

Dutch Lipid Clinic Scoring : Definite FH

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided6not provided5not provided

Last Updated: Jun 23, 2024