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NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 5, 2021
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:
RCV002379059.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu)]

NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu)

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.1026C>G (p.Asp342Glu)
Other names:
FH New York-1
HGVS:
  • NC_000019.10:g.11110737C>G
  • NG_009060.1:g.26357C>G
  • NM_000527.5:c.1026C>GMANE SELECT
  • NM_001195798.2:c.1026C>G
  • NM_001195799.2:c.903C>G
  • NM_001195800.2:c.522C>G
  • NM_001195803.2:c.645C>G
  • NP_000518.1:p.Asp342Glu
  • NP_000518.1:p.Asp342Glu
  • NP_001182727.1:p.Asp342Glu
  • NP_001182728.1:p.Asp301Glu
  • NP_001182729.1:p.Asp174Glu
  • NP_001182732.1:p.Asp215Glu
  • LRG_274t1:c.1026C>G
  • LRG_274:g.26357C>G
  • LRG_274p1:p.Asp342Glu
  • NC_000019.9:g.11221413C>G
  • NM_000527.4:c.1026C>G
  • P01130:p.Asp342Glu
  • c.1026C>G
Protein change:
D174E
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001327; UniProtKB: P01130#VAR_005365; dbSNP: rs780563386
NCBI 1000 Genomes Browser:
rs780563386
Molecular consequence:
  • NM_000527.5:c.1026C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1026C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.903C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.522C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.645C>G - 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
SCV002689983Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 5, 2021) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.

Hobbs HH, Brown MS, Goldstein JL.

Hum Mutat. 1992;1(6):445-66. Review.

PubMed [citation]
PMID:
1301956

Details of each submission

From Ambry Genetics, SCV002689983.2

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

Description

The p.D342E variant (also known as c.1026C>G), located in coding exon 7 of the LDLR gene, results from a C to G substitution at nucleotide position 1026. The aspartic acid at codon 342 is replaced by glutamic acid, an amino acid with highly similar properties. This variant was reported in an individual with LDL receptor activity of 2-5% of wildtype, who was compound heterozygous with another reported LDLR mutation; however, further clinical information on this individual was not provided (Hobbs HH et al. Hum Mutat, 1992;1:445-66). This amino acid position is poorly 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 29, 2024