NM_000527.5(LDLR):c.2206G>A (p.Val736Ile) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 6, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001192515.1

Allele description [Variation Report for NM_000527.5(LDLR):c.2206G>A (p.Val736Ile)]

NM_000527.5(LDLR):c.2206G>A (p.Val736Ile)

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.2206G>A (p.Val736Ile)
HGVS:
  • NC_000019.10:g.11123239G>A
  • NG_009060.1:g.38859G>A
  • NM_000527.4:c.2206G>A
  • NM_000527.5:c.2206G>AMANE SELECT
  • NM_001195798.2:c.2206G>A
  • NM_001195799.2:c.2083G>A
  • NM_001195800.2:c.1702G>A
  • NM_001195803.2:c.1672G>A
  • NP_000518.1:p.Val736Ile
  • NP_000518.1:p.Val736Ile
  • NP_001182727.1:p.Val736Ile
  • NP_001182728.1:p.Val695Ile
  • NP_001182729.1:p.Val568Ile
  • NP_001182732.1:p.Val558Ile
  • LRG_274t1:c.2206G>A
  • LRG_274:g.38859G>A
  • LRG_274p1:p.Val736Ile
  • NC_000019.9:g.11233915G>A
Protein change:
V558I
Links:
dbSNP: rs547268730
NCBI 1000 Genomes Browser:
rs547268730
Molecular consequence:
  • NM_000527.4:c.2206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.2206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.2206G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.2083G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1702G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1672G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001360709Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Feb 6, 2019)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Identification and molecular characterisation of Lausanne Institutional Biobank participants with familial hypercholesterolaemia - a proof-of-concept study.

Maurer F, Pradervand S, Guilleret I, Nanchen D, Maghraoui A, Chapatte L, Bojkowska K, Bhuiyan ZA, Jacquemont N, Harshman K, Mooser V.

Swiss Med Wkly. 2016;146:w14326. doi: 10.4414/smw.2016.14326.

PubMed [citation]
PMID:
27497240

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001360709.1

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

Description

Variant summary: The variant, LDLR c.2206G>A (p.Val736Ile) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.4e-05 in 277018 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2206G>A has been reported in the literature in individuals affected with familial hypercholesterolemia (Maurer_2016, Haralambos_2013). This report however, does not provide unequivocal conclusions about association of the variant with Early Onset Coronary Artery Disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Oct 25, 2021

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