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NM_000527.5(LDLR):c.16_17insTTCCT (p.Trp6fs) AND Hypercholesterolemia, familial, 1

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000408888.1

Allele description [Variation Report for NM_000527.5(LDLR):c.16_17insTTCCT (p.Trp6fs)]

NM_000527.5(LDLR):c.16_17insTTCCT (p.Trp6fs)

Genes:
LDLR-AS1:LDLR antisense RNA 1 [Gene - HGNC]
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.16_17insTTCCT (p.Trp6fs)
HGVS:
  • NC_000019.10:g.11089564_11089565insTTCCT
  • NG_009060.1:g.5184_5185insTTCCT
  • NM_000527.5:c.16_17insTTCCTMANE SELECT
  • NM_001195798.2:c.16_17insTTCCT
  • NM_001195799.2:c.16_17insTTCCT
  • NM_001195800.2:c.16_17insTTCCT
  • NM_001195803.2:c.16_17insTTCCT
  • NP_000518.1:p.Trp6fs
  • NP_000518.1:p.W6Ffs*201
  • NP_001182727.1:p.Trp6fs
  • NP_001182728.1:p.Trp6fs
  • NP_001182729.1:p.Trp6fs
  • NP_001182732.1:p.Trp6fs
  • LRG_274t1:c.14_15insCTTTC
  • LRG_274:g.5184_5185insTTCCT
  • LRG_274p1:p.W6Ffs*201
  • NC_000019.9:g.11200240_11200241insTTCCT
  • NM_000527.4:c.14_15insCTTTC
  • NR_163945.1:n.97_98insGAAAG
Protein change:
W6fs
Links:
dbSNP: rs774615547
NCBI 1000 Genomes Browser:
rs774615547
Molecular consequence:
  • NM_000527.5:c.16_17insTTCCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.16_17insTTCCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.16_17insTTCCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.16_17insTTCCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.16_17insTTCCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_163945.1:n.97_98insGAAAG - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

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
SCV000484800Robarts Research Institute, Western University
criteria provided, single submitter

(Wang et al. (Arterioscler Thromb Vasc Biol. 2016))		Likely pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.

Wang J, Dron JS, Ban MR, Robinson JF, McIntyre AD, Alazzam M, Zhao PJ, Dilliott AA, Cao H, Huff MW, Rhainds D, Low-Kam C, Dubé MP, Lettre G, Tardif JC, Hegele RA.

Arterioscler Thromb Vasc Biol. 2016 Dec;36(12):2439-2445. Epub 2016 Oct 20.

PubMed [citation]
PMID:
27765764

Details of each submission

From Robarts Research Institute, Western University, SCV000484800.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Aug 5, 2023