U.S. flag

An official website of the United States government

NM_000527.5(LDLR):c.1876G>T (p.Glu626Ter) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 19, 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:
RCV002415206.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1876G>T (p.Glu626Ter)]

NM_000527.5(LDLR):c.1876G>T (p.Glu626Ter)

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.1876G>T (p.Glu626Ter)
HGVS:
  • NC_000019.10:g.11120122G>T
  • NG_009060.1:g.35742G>T
  • NM_000527.5:c.1876G>TMANE SELECT
  • NM_001195798.2:c.1876G>T
  • NM_001195799.2:c.1753G>T
  • NM_001195800.2:c.1372G>T
  • NM_001195803.2:c.1495G>T
  • NP_000518.1:p.Glu626Ter
  • NP_000518.1:p.Glu626Ter
  • NP_001182727.1:p.Glu626Ter
  • NP_001182728.1:p.Glu585Ter
  • NP_001182729.1:p.Glu458Ter
  • NP_001182732.1:p.Glu499Ter
  • LRG_274t1:c.1876G>T
  • LRG_274:g.35742G>T
  • LRG_274p1:p.Glu626Ter
  • NC_000019.9:g.11230798G>T
  • NM_000527.4:c.1876G>T
Protein change:
E458*
Molecular consequence:
  • NM_000527.5:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195798.2:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195799.2:c.1753G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195800.2:c.1372G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195803.2:c.1495G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002717847Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 19, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002717847.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.E626* pathogenic mutation (also known as c.1876G>T), located in coding exon 13 of the LDLR gene, results from a G to T substitution at nucleotide position 1876. This changes the amino acid from a glutamic acid to a stop codon within coding exon 13. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024