NM_000527.5(LDLR):c.1837G>A (p.Val613Ile) AND Hypercholesterolaemia

Clinical significance:Uncertain significance (Last evaluated: Jun 1, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000148595.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)]

NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)

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.1837G>A (p.Val613Ile)
HGVS:
  • NC_000019.10:g.11116990G>A
  • NG_009060.1:g.32610G>A
  • NM_000527.4:c.1837G>A
  • NM_000527.5:c.1837G>AMANE SELECT
  • NM_001195798.2:c.1837G>A
  • NM_001195799.2:c.1714G>A
  • NM_001195800.2:c.1333G>A
  • NM_001195803.2:c.1456G>A
  • NP_000518.1:p.Val613Ile
  • NP_000518.1:p.Val613Ile
  • NP_001182727.1:p.Val613Ile
  • NP_001182728.1:p.Val572Ile
  • NP_001182729.1:p.Val445Ile
  • NP_001182732.1:p.Val486Ile
  • LRG_274t1:c.1837G>A
  • LRG_274:g.32610G>A
  • LRG_274p1:p.Val613Ile
  • NC_000019.9:g.11227666G>A
  • c.1837G>A
Protein change:
V445I
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000250;
Molecular consequence:
  • NM_000527.4:c.1837G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.1837G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1837G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1714G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1333G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1456G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypercholesterolaemia
Identifiers:
MedGen: C0020443

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000190310CSER _CC_NCGL, University of Washington - ESP 6500 variant annotationcriteria provided, single submitter
Uncertain significance
(Jun 1, 2014)
germlineresearch

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

Description

Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript

SCV000190310

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, et al.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

PubMed [citation]
PMID:
25637381
PMCID:
PMC4352885

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190310.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

Low GERP score may suggest that this variant may belong in a lower pathogenicity class

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

Last Updated: Oct 8, 2021

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