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NM_000527.5(LDLR):c.2099_2102dup (p.Met702fs) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 8, 2017
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:
RCV002424147.2

Allele description [Variation Report for NM_000527.5(LDLR):c.2099_2102dup (p.Met702fs)]

NM_000527.5(LDLR):c.2099_2102dup (p.Met702fs)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.2099_2102dup (p.Met702fs)
HGVS:
  • NC_000019.10:g.11120481_11120484dup
  • NG_009060.1:g.36101_36104dup
  • NM_000527.5:c.2099_2102dupMANE SELECT
  • NM_001195798.2:c.2099_2102dup
  • NM_001195799.2:c.1976_1979dup
  • NM_001195800.2:c.1595_1598dup
  • NM_001195803.2:c.1606+248_1606+251dup
  • NP_000518.1:p.Met702Argfs
  • NP_000518.1:p.Met702fs
  • NP_001182727.1:p.Met702fs
  • NP_001182728.1:p.Met661fs
  • NP_001182729.1:p.Met534fs
  • LRG_274t1:c.2099_2102dup
  • LRG_274:g.36101_36104dup
  • LRG_274p1:p.Met702Argfs
  • NC_000019.9:g.11231157_11231160dup
  • NM_000527.4:c.2099_2102dup
  • NM_000527.4:c.2099_2102dupACGG
Protein change:
M534fs
Molecular consequence:
  • NM_000527.5:c.2099_2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.2099_2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.1976_1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.1595_1598dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.1606+248_1606+251dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV002724507Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 8, 2017) 		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, SCV002724507.2

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

Description

The c.2099_2102dupACGG pathogenic mutation, located in coding exon 14 of the LDLR gene, results from a duplication of ACGG at nucleotide position 2099, causing a translational frameshift with a predicted alternate stop codon (p.M702Rfs*16). 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