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NM_000527.5(LDLR):c.272del (p.Gly91fs) AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 30, 2017
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:
RCV000761444.2

Allele description [Variation Report for NM_000527.5(LDLR):c.272del (p.Gly91fs)]

NM_000527.5(LDLR):c.272del (p.Gly91fs)

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.272del (p.Gly91fs)
HGVS:
  • NC_000019.10:g.11102745del
  • NG_009060.1:g.18365del
  • NM_000527.5:c.272delMANE SELECT
  • NM_001195798.2:c.272del
  • NM_001195799.2:c.190+2400del
  • NM_001195800.2:c.272del
  • NM_001195803.2:c.272del
  • NP_000518.1:p.Gly91fs
  • NP_000518.1:p.Gly91fs
  • NP_001182727.1:p.Gly91fs
  • NP_001182729.1:p.Gly91fs
  • NP_001182732.1:p.Gly91fs
  • LRG_274t1:c.272del
  • LRG_274:g.18365del
  • LRG_274p1:p.Gly91fs
  • NC_000019.9:g.11213421del
  • NM_000527.4:c.272del
Protein change:
G91fs
Links:
dbSNP: rs1568592055
NCBI 1000 Genomes Browser:
rs1568592055
Molecular consequence:
  • NM_000527.5:c.272del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.272del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.272del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.272del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.190+2400del - 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
SCV000891527Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
no assertion criteria provided
Pathogenic
(Dec 30, 2017) 		unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Low-density lipoprotein receptor gene mutation analysis and structure-function correlation in an Omani arab family with familial hypercholesterolemia.

Al-Rasadi K, Al-Waili K, Al-Zidi WA, Al-Abri AR, Al-Hinai AT, Al-Sabti HA, Al-Tobi S, Al-Zakwani I, Al-Zadjali F, Al-Hashmi K, Banerjee Y.

Angiology. 2014 Nov;65(10):911-8. doi: 10.1177/0003319713510059. Epub 2013 Nov 17.

PubMed [citation]
PMID:
24249837

Details of each submission

From Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, SCV000891527.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023