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NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 10, 2023
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:
RCV002415706.3

Allele description [Variation Report for NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)]

NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)

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.1951G>A (p.Asp651Asn)
Other names:
NM_000527.5(LDLR):c.1951G>A
HGVS:
  • NC_000019.10:g.11120197G>A
  • NG_009060.1:g.35817G>A
  • NM_000527.5:c.1951G>AMANE SELECT
  • NM_001195798.2:c.1951G>A
  • NM_001195799.2:c.1828G>A
  • NM_001195800.2:c.1447G>A
  • NM_001195803.2:c.1570G>A
  • NP_000518.1:p.Asp651Asn
  • NP_000518.1:p.Asp651Asn
  • NP_001182727.1:p.Asp651Asn
  • NP_001182728.1:p.Asp610Asn
  • NP_001182729.1:p.Asp483Asn
  • NP_001182732.1:p.Asp524Asn
  • LRG_274t1:c.1951G>A
  • LRG_274:g.35817G>A
  • LRG_274p1:p.Asp651Asn
  • NC_000019.9:g.11230873G>A
  • NM_000527.4:c.1951G>A
  • c.1951G>A
Protein change:
D483N
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000851; dbSNP: rs730882110
NCBI 1000 Genomes Browser:
rs730882110
Molecular consequence:
  • NM_000527.5:c.1951G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1951G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1828G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1447G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1570G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
no known functional consequence - Comment(s)

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
SCV002718288Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 10, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

Mozas P, Castillo S, Tejedor D, Reyes G, Alonso R, Franco M, Saenz P, Fuentes F, Almagro F, Mata P, Pocoví M.

Hum Mutat. 2004 Aug;24(2):187.

PubMed [citation]
PMID:
15241806

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

Do R, Stitziel NO, Won HH, Jørgensen AB, Duga S, Angelica Merlini P, Kiezun A, Farrall M, Goel A, Zuk O, Guella I, Asselta R, Lange LA, Peloso GM, Auer PL; NHLBI Exome Sequencing Project., Girelli D, Martinelli N, Farlow DN, DePristo MA, Roberts R, Stewart AF, et al.

Nature. 2015 Feb 5;518(7537):102-6. doi: 10.1038/nature13917. Epub 2014 Dec 10.

PubMed [citation]
PMID:
25487149
PMCID:
PMC4319990
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002718288.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.D651N variant (also known as c.1951G>A), located in coding exon 13 of the LDLR gene, results from a G to A substitution at nucleotide position 1951. The aspartic acid at codon 651 is replaced by asparagine, an amino acid with highly similar properties. This alteration, which is also known as p.D630N, was reported in a Spanish familial hypercholesterolemia (FH) cohort, and was found by exome sequencing in individuals with myocardial infarction; however, clinical details were limited (Mozas P et al. Hum Mutat. 2004;24:187; Do R et al. Nature. 2015;518:102-6; Thormaehlen AS et al. PLoS Genet. 2015;11:e1004855). This amino acid position is highly 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: Oct 20, 2024