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NM_000527.5(LDLR):c.378del (p.Phe126fs) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 24, 2020
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:
RCV002367700.2

Allele description [Variation Report for NM_000527.5(LDLR):c.378del (p.Phe126fs)]

NM_000527.5(LDLR):c.378del (p.Phe126fs)

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.378del (p.Phe126fs)
HGVS:
  • NC_000019.10:g.11105284del
  • NG_009060.1:g.20904del
  • NM_000527.5:c.378delMANE SELECT
  • NM_001195798.2:c.378del
  • NM_001195799.2:c.255del
  • NM_001195800.2:c.314-2108del
  • NM_001195803.2:c.314-1281del
  • NP_000518.1:p.Phe126fs
  • NP_000518.1:p.Phe126fs
  • NP_001182727.1:p.Phe126fs
  • NP_001182728.1:p.Phe85fs
  • LRG_274t1:c.378del
  • LRG_274:g.20904del
  • LRG_274p1:p.Phe126fs
  • NC_000019.9:g.11215960del
  • NM_000527.4:c.378del
  • NM_000527.4:c.378delC
Protein change:
F126fs
Links:
dbSNP: rs1555803213
NCBI 1000 Genomes Browser:
rs1555803213
Molecular consequence:
  • NM_000527.5:c.378del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.378del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.255del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.314-2108del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1281del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV002625810Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jul 24, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002625810.2

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

Description

The c.378delC variant, located in coding exon 4 of the LDLR gene, results from a deletion of one nucleotide at nucleotide position 378, causing a translational frameshift with a predicted alternate stop codon (p.F126Lfs*80). 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: Sep 29, 2024