NM_000527.5(LDLR):c.1060+10G>A AND Familial hypercholesterolemia

Clinical significance:Uncertain significance (Last evaluated: Apr 24, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001242346.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1060+10G>A]

NM_000527.5(LDLR):c.1060+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.1060+10G>A
HGVS:
  • NC_000019.10:g.11110781G>A
  • NG_009060.1:g.26401G>A
  • NM_000527.5:c.1060+10G>AMANE SELECT
  • NM_001195798.2:c.1060+10G>A
  • NM_001195799.2:c.937+10G>A
  • NM_001195800.2:c.556+10G>A
  • NM_001195803.2:c.679+10G>A
  • LRG_274t1:c.1060+10G>A
  • LRG_274:g.26401G>A
  • NC_000019.9:g.11221457G>A
  • NM_000527.4(LDLR):c.1060+10G>A
  • NM_000527.4:c.1060+10G>A
  • c.1060+10G>A
  • p.(Asp354Glyfs*20)
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000880;
Molecular consequence:
  • NM_000527.5:c.1060+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195798.2:c.1060+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195799.2:c.937+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195800.2:c.556+10G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.679+10G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Familial hypercholesterolemia (FH)
Identifiers:
MONDO: MONDO:0005439; MedGen: C0020445; OMIM: PS143890

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001415427Invitaecriteria provided, single submitter
Uncertain significance
(Apr 24, 2019)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.

Amsellem S, Briffaut D, Carrié A, Rabès JP, Girardet JP, Fredenrich A, Moulin P, Krempf M, Reznik Y, Vialettes B, de Gennes JL, Brukert E, Benlian P.

Hum Genet. 2002 Dec;111(6):501-10. Epub 2002 Sep 13.

PubMed [citation]
PMID:
12436241

The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population.

Damgaard D, Larsen ML, Nissen PH, Jensen JM, Jensen HK, Soerensen VR, Jensen LG, Faergeman O.

Atherosclerosis. 2005 May;180(1):155-60. Epub 2005 Jan 12.

PubMed [citation]
PMID:
15823288
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001415427.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change falls in intron 7 of the LDLR gene. It does not directly change the encoded amino acid sequence of the LDLR protein. This variant is present in population databases (rs12710260, ExAC 0.006%). This variant has been observed in several individuals affected with hypercholesterolemia (PMID: 12436241, 15823288,23375686). ClinVar contains an entry for this variant (Variation ID: 251625). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Nov 27, 2021

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