NM_000527.4(LDLR):c.1586+5G>C AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jun 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001509011.1

Allele description [Variation Report for NM_000527.4(LDLR):c.1586+5G>C]

NM_000527.4(LDLR):c.1586+5G>C

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.4(LDLR):c.1586+5G>C
HGVS:
  • NC_000019.10:g.11113767G>C
  • NG_009060.1:g.29387G>C
  • NM_000527.4:c.1586+5G>C
  • NM_001195798.2:c.1586+5G>C
  • NM_001195799.2:c.1463+5G>C
  • NM_001195800.2:c.1082+5G>C
  • NM_001195803.2:c.1205+5G>C
  • LRG_274t1:c.1586+5G>C
  • LRG_274:g.29387G>C
  • NC_000019.9:g.11224443G>C
  • NM_000527.4(LDLR):c.1586+5G>C
Links:
dbSNP: rs781362878
NCBI 1000 Genomes Browser:
rs781362878
Molecular consequence:
  • NM_000527.4:c.1586+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195798.2:c.1586+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195799.2:c.1463+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195800.2:c.1082+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.1205+5G>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001715492Mayo Clinic Laboratories, Mayo Cliniccriteria provided, single submitter
Likely pathogenic
(Jun 1, 2019)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.

Yang KC, Su YN, Shew JY, Yang KY, Tseng WK, Wu CC, Lee YT.

J Formos Med Assoc. 2007 Oct;106(10):799-807.

PubMed [citation]
PMID:
17964958

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 Mayo Clinic Laboratories, Mayo Clinic, SCV001715492.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

PM1, PS4_moderate, PP1, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 27, 2021

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