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NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 14, 2021
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:
RCV000523095.2

Allele description [Variation Report for NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter)]

NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter)
HGVS:
  • NC_000019.10:g.11120522G>T
  • NG_009060.1:g.36142G>T
  • NM_000527.5:c.2140G>TMANE SELECT
  • NM_001195798.2:c.2140G>T
  • NM_001195799.2:c.2017G>T
  • NM_001195800.2:c.1636G>T
  • NM_001195803.2:c.1606+289G>T
  • NP_000518.1:p.Glu714Ter
  • NP_000518.1:p.Glu714Ter
  • NP_001182727.1:p.Glu714Ter
  • NP_001182728.1:p.Glu673Ter
  • NP_001182729.1:p.Glu546Ter
  • LRG_274t1:c.2140G>T
  • LRG_274:g.36142G>T
  • LRG_274p1:p.Glu714Ter
  • NC_000019.9:g.11231198G>T
  • NM_000527.4:c.2140G>T
  • c.2140G>T
  • p.Glu714*
Protein change:
E546*
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000876; dbSNP: rs869320652
NCBI 1000 Genomes Browser:
rs869320652
Molecular consequence:
  • NM_001195803.2:c.1606+289G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.2140G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195798.2:c.2140G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195799.2:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195800.2:c.1636G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000617496GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Apr 14, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000617496.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Identified in at least two unrelated patients with familial hypercholesterolemia (FH) in the published literature (also reported as E693X due to alternate nomenclature) (Amsellam et al., 2002; Khera et al., 2016), and in a patient referred for testing at GeneDx.; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Reported in ClinVar as pathogenic (ClinVar Variant ID#225183; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27050191, 12436241, 25525159, 12124988)

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

Last Updated: Sep 29, 2024