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NM_000527.5(LDLR):c.379G>A (p.Val127Ile) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 17, 2019
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:
RCV002359257.2

Allele description [Variation Report for NM_000527.5(LDLR):c.379G>A (p.Val127Ile)]

NM_000527.5(LDLR):c.379G>A (p.Val127Ile)

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.379G>A (p.Val127Ile)
HGVS:
  • NC_000019.10:g.11105285G>A
  • NG_009060.1:g.20905G>A
  • NM_000527.5:c.379G>AMANE SELECT
  • NM_001195798.2:c.379G>A
  • NM_001195799.2:c.256G>A
  • NM_001195800.2:c.314-2107G>A
  • NM_001195803.2:c.314-1280G>A
  • NP_000518.1:p.Val127Ile
  • NP_001182727.1:p.Val127Ile
  • NP_001182728.1:p.Val86Ile
  • LRG_274t1:c.379G>A
  • LRG_274:g.20905G>A
  • NC_000019.9:g.11215961G>A
  • NM_000527.4:c.379G>A
Protein change:
V127I
Links:
dbSNP: rs2147223533
NCBI 1000 Genomes Browser:
rs2147223533
Molecular consequence:
  • NM_001195800.2:c.314-2107G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1280G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.256G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002620142Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 17, 2019) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Sharifi M, Walus-Miarka M, Idzior-WaluĊ› B, Malecki MT, Sanak M, Whittall R, Li KW, Futema M, Humphries SE.

Metabolism. 2016 Mar;65(3):48-53. doi: 10.1016/j.metabol.2015.10.018. Epub 2015 Nov 10.

PubMed [citation]
PMID:
26892515
PMCID:
PMC4766367

Details of each submission

From Ambry Genetics, SCV002620142.2

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

Description

The p.V127I variant (also known as c.379G>A), located in coding exon 4 of the LDLR gene, results from a G to A substitution at nucleotide position 379. The valine at codon 127 is replaced by isoleucine, an amino acid with highly similar properties. Another variant affecting this codon has been detected in a hypercholesterolemia cohort; however, details were limited (Sharifi M et al. Metab. Clin. Exp., 2016 Mar;65:48-53). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024