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NM_000527.5(LDLR):c.-8C>A AND Hypercholesterolemia, familial, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 8, 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:
RCV001813908.1

Allele description [Variation Report for NM_000527.5(LDLR):c.-8C>A]

NM_000527.5(LDLR):c.-8C>A

Genes:
LDLR-AS1:LDLR antisense RNA 1 [Gene - HGNC]
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.-8C>A
HGVS:
  • NC_000019.10:g.11089541C>A
  • NG_009060.1:g.5161C>A
  • NM_000527.5:c.-8C>AMANE SELECT
  • NM_001195798.2:c.-8C>A
  • NM_001195799.2:c.-8C>A
  • NM_001195800.2:c.-8C>A
  • NM_001195803.2:c.-8C>A
  • LRG_274t1:c.-8C>A
  • LRG_274:g.5161C>A
  • NC_000019.9:g.11200217C>A
  • NM_000527.4:c.-8C>A
  • NR_163945.1:n.119G>T
Links:
dbSNP: rs2147186383
NCBI 1000 Genomes Browser:
rs2147186383
Molecular consequence:
  • NM_000527.5:c.-8C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001195798.2:c.-8C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001195799.2:c.-8C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001195800.2:c.-8C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001195803.2:c.-8C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_163945.1:n.119G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002061308Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 8, 2021) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics, SCV002061308.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

a mother affected hypercholesterolemia has the same variant

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Dec 24, 2023