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NM_000527.5(LDLR):c.2506G>A (p.Val836Ile) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 20, 2022
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:
RCV002429178.2

Allele description [Variation Report for NM_000527.5(LDLR):c.2506G>A (p.Val836Ile)]

NM_000527.5(LDLR):c.2506G>A (p.Val836Ile)

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.2506G>A (p.Val836Ile)
HGVS:
  • NC_000019.10:g.11129629G>A
  • NG_009060.1:g.45249G>A
  • NM_000527.5:c.2506G>AMANE SELECT
  • NM_001195798.2:c.2506G>A
  • NM_001195799.2:c.2383G>A
  • NM_001195800.2:c.2002G>A
  • NM_001195803.2:c.1972G>A
  • NP_000518.1:p.Val836Ile
  • NP_000518.1:p.Val836Ile
  • NP_001182727.1:p.Val836Ile
  • NP_001182728.1:p.Val795Ile
  • NP_001182729.1:p.Val668Ile
  • NP_001182732.1:p.Val658Ile
  • LRG_274t1:c.2506G>A
  • LRG_274:g.45249G>A
  • LRG_274p1:p.Val836Ile
  • NC_000019.9:g.11240305G>A
  • NM_000527.4:c.2506G>A
  • c.2506G>A
Protein change:
V658I
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001089; dbSNP: rs879255220
NCBI 1000 Genomes Browser:
rs879255220
Molecular consequence:
  • NM_000527.5:c.2506G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.2506G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.2383G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.2002G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002742365Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Apr 20, 2022)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

Fouchier SW, Kastelein JJ, Defesche JC.

Hum Mutat. 2005 Dec;26(6):550-6.

PubMed [citation]
PMID:
16250003

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.

Leigh SE, Foster AH, Whittall RA, Hubbart CS, Humphries SE.

Ann Hum Genet. 2008 Jul;72(Pt 4):485-98. doi: 10.1111/j.1469-1809.2008.00436.x. Epub 2008 Mar 5.

PubMed [citation]
PMID:
18325082

Details of each submission

From Ambry Genetics, SCV002742365.2

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

Description

The p.V836I variant (also known as c.2506G>A), located in coding exon 17 of the LDLR gene, results from a G to A substitution at nucleotide position 2506. The valine at codon 836 is replaced by isoleucine, an amino acid with highly similar properties. This variant has been reported in familial hypercholesterolemia (FH) cohorts; however, clinical details were limited (Fouchier SW et al. Hum. Mutat., 2005 Dec;26:550-6; Leigh SE et al. Ann. Hum. Genet., 2008 Jul;72:485-98). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: Sep 1, 2024