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NM_000527.5(LDLR):c.1251_1254del (p.Glu418fs) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 19, 2024
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:
RCV004412640.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1251_1254del (p.Glu418fs)]

NM_000527.5(LDLR):c.1251_1254del (p.Glu418fs)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.1251_1254del (p.Glu418fs)
HGVS:
  • NC_000019.10:g.11113342_11113345del
  • NG_009060.1:g.28962_28965del
  • NM_000527.5:c.1251_1254delMANE SELECT
  • NM_001195798.2:c.1251_1254del
  • NM_001195799.2:c.1128_1131del
  • NM_001195800.2:c.747_750del
  • NM_001195803.2:c.870_873del
  • NP_000518.1:p.Glu418Thrfs
  • NP_000518.1:p.Glu418fs
  • NP_001182727.1:p.Glu418fs
  • NP_001182728.1:p.Glu377fs
  • NP_001182729.1:p.Glu250fs
  • NP_001182732.1:p.Glu291fs
  • LRG_274t1:c.1251_1254del
  • LRG_274:g.28962_28965del
  • LRG_274p1:p.Glu418Thrfs
  • NC_000019.9:g.11224018_11224021del
  • NM_000527.4:c.1251_1254delCGAG
Protein change:
E250fs
Molecular consequence:
  • NM_000527.5:c.1251_1254del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.1251_1254del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.1128_1131del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.747_750del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.870_873del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004897966Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 19, 2024) 		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, SCV004897966.1

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

Description

The c.1251_1254delCGAG (p.E418Tfs*8) alteration, located in exon 9 (coding exon 9) of the LDLR gene, consists of a deletion of 4 nucleotides from position 1251 to 1254, causing a translational frameshift with a predicted alternate stop codon after 8 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: May 7, 2024