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NM_000527.5(LDLR):c.347_349del (p.Cys116_His117delinsTyr) AND Hypercholesterolemia, familial, 1

Germline classification:
Likely 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:
RCV000238323.3

Allele description [Variation Report for NM_000527.5(LDLR):c.347_349del (p.Cys116_His117delinsTyr)]

NM_000527.5(LDLR):c.347_349del (p.Cys116_His117delinsTyr)

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.347_349del (p.Cys116_His117delinsTyr)
HGVS:
  • NC_000019.10:g.11105253_11105255del
  • NG_009060.1:g.20873_20875del
  • NM_000527.5:c.347_349delMANE SELECT
  • NM_001195798.2:c.347_349del
  • NM_001195799.2:c.224_226del
  • NM_001195800.2:c.314-2139_314-2137del
  • NM_001195803.2:c.314-1312_314-1310del
  • NP_000518.1:p.Cys116_His117delinsTyr
  • NP_000518.1:p.Cys116_His117delinsTyr
  • NP_001182727.1:p.Cys116_His117delinsTyr
  • NP_001182728.1:p.Cys75_His76delinsTyr
  • LRG_274t1:c.347_349del
  • LRG_274:g.20873_20875del
  • LRG_274p1:p.Cys116_His117delinsTyr
  • NC_000019.9:g.11215929_11215931del
  • NM_000527.4:c.347_349del
  • c.347_349del
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000689; dbSNP: rs879254483
NCBI 1000 Genomes Browser:
rs879254483
Molecular consequence:
  • NM_000527.5:c.347_349del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001195798.2:c.347_349del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001195799.2:c.224_226del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001195800.2:c.314-2139_314-2137del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1312_314-1310del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000294643LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

(ACGS Guidelines, 2013)		Likely pathogenic
(Mar 25, 2016) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000606095Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum
no assertion criteria provided
Pathogenicgermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot provided2not providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Two novel low-density lipoprotein receptor gene mutations (E397X and 347delGCC) in St. Petersburg familial hypercholesterolemia.

Chakir K, Ju MM, Shevtsov SP, Golubkov VI, Skobeleva NA, Shur YA, Zakharova FM, Lipovetskyi BM, Konstantinov VO, Denisenko AD, Gaitskhoki VS, Schwartz EI.

Mol Genet Metab. 1998 Dec;65(4):311-4. Erratum in: Mol Genet Metab. 2005 May;85(1):81. Kh, C [corrected to Chakir, K].

PubMed [citation]
PMID:
9889019

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Dušková L, Kopečková L, Jansová E, Tichý L, Freiberger T, Zapletalová P, Soška V, Ravčuková B, Fajkusová L.

Atherosclerosis. 2011 May;216(1):139-45. doi: 10.1016/j.atherosclerosis.2011.01.023. Epub 2011 Jan 21.

PubMed [citation]
PMID:
21310417

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294643.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (2)
2not provided1not providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum, SCV000606095.1

#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