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NM_000527.5(LDLR):c.2311+10G>A AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 21, 2016
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:
RCV000786343.2

Allele description [Variation Report for NM_000527.5(LDLR):c.2311+10G>A]

NM_000527.5(LDLR):c.2311+10G>A

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.2311+10G>A
HGVS:
  • NC_000019.10:g.11123354G>A
  • NG_009060.1:g.38974G>A
  • NM_000527.5:c.2311+10G>AMANE SELECT
  • NM_001195798.2:c.2311+10G>A
  • NM_001195799.2:c.2188+10G>A
  • NM_001195800.2:c.1807+10G>A
  • NM_001195803.2:c.1777+10G>A
  • LRG_274t1:c.2311+10G>A
  • LRG_274:g.38974G>A
  • NC_000019.9:g.11234030G>A
  • NM_000527.4:c.2311+10G>A
Links:
dbSNP: rs1568614967
NCBI 1000 Genomes Browser:
rs1568614967
Molecular consequence:
  • NM_000527.5:c.2311+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195798.2:c.2311+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195799.2:c.2188+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195800.2:c.1807+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.1777+10G>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000925121Stanford Center for Inherited Cardiovascular Disease, Stanford University
no assertion criteria provided
Likely pathogenic
(Mar 21, 2016) 		germlineprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000925121.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided

Description

The variant has been seen in at least three unrelated cases of familial hypercholesterolemia (not including this patient's family). There is strong case data. This alteration was first identified in individuals with familial hypercholesterolemia (FH) from the Czech Republic (Kuhrová V et al. Hum Mutat. 2002;19(1):80). In addition, this variant was identified in 4 unrelated individuals with FH out of 378 unrelated FH patients from Poland (Chmara M et al. J Appl Genet. 2010;51(1):95-106). In silico analysis with PolyPhen-2 predicts the variant to be probably damaging (HumVar: 0.999). The aspartic acid at codon 140 is conserved across species, as are neighboring amino acids. Multiple alterations at the same codon (p.E140G, p.E140Q, p.E140K and p.E140X), have been described in the literature There is no variation at codon 140 listed in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/), which currently includes variant calls on ~64,000 individuals of European, African, Latino and Asian descent (as of March 21, 2016).

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

Last Updated: Jun 23, 2024