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NM_000527.5(LDLR):c.2116_2117insC (p.Arg706fs) AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000508932.1

Allele description [Variation Report for NM_000527.5(LDLR):c.2116_2117insC (p.Arg706fs)]

NM_000527.5(LDLR):c.2116_2117insC (p.Arg706fs)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.2116_2117insC (p.Arg706fs)
HGVS:
  • NC_000019.10:g.11120498_11120499insC
  • NG_009060.1:g.36118_36119insC
  • NM_000527.5:c.2116_2117insCMANE SELECT
  • NM_001195798.2:c.2116_2117insC
  • NM_001195799.2:c.1993_1994insC
  • NM_001195800.2:c.1612_1613insC
  • NM_001195803.2:c.1606+265_1606+266insC
  • NP_000518.1:p.Arg706fs
  • NP_000518.1:p.Arg706fs
  • NP_001182727.1:p.Arg706fs
  • NP_001182728.1:p.Arg665fs
  • NP_001182729.1:p.Arg538fs
  • LRG_274t1:c.2116_2117insC
  • LRG_274:g.36118_36119insC
  • LRG_274p1:p.Arg706fs
  • NC_000019.9:g.11231174_11231175insC
  • NM_000527.4:c.2116_2117insC
Protein change:
R538fs
Links:
dbSNP: rs1555807465
NCBI 1000 Genomes Browser:
rs1555807465
Molecular consequence:
  • NM_000527.5:c.2116_2117insC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.2116_2117insC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.1993_1994insC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.1612_1613insC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.1606+265_1606+266insC - 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
SCV000606603Laboratorium 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

Details of each submission

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum, SCV000606603.1

#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