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NM_000527.5(LDLR):c.1808dup (p.Arg604fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 22, 2018
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:
RCV000599525.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1808dup (p.Arg604fs)]

NM_000527.5(LDLR):c.1808dup (p.Arg604fs)

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.1808dup (p.Arg604fs)
HGVS:
  • NC_000019.10:g.11116961dup
  • NG_009060.1:g.32581dup
  • NM_000527.5:c.1808dupMANE SELECT
  • NM_001195798.2:c.1808dup
  • NM_001195799.2:c.1685dup
  • NM_001195800.2:c.1304dup
  • NM_001195803.2:c.1427dup
  • NP_000518.1:p.Arg604fs
  • NP_001182727.1:p.Arg604fs
  • NP_001182728.1:p.Arg563fs
  • NP_001182729.1:p.Arg436fs
  • NP_001182732.1:p.Arg477fs
  • LRG_274:g.32581dup
  • NC_000019.9:g.11227637dup
  • NM_000527.4:c.1808dupA
Protein change:
R436fs
Links:
dbSNP: rs1555806526
NCBI 1000 Genomes Browser:
rs1555806526
Molecular consequence:
  • NM_000527.5:c.1808dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.1808dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.1304dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.1427dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000710453GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jan 22, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000710453.1

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

Description

Although the c.1808dupA likely pathogenic variant in the LDLR gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon arginine 604, changing it to a glutamic acid, and creating a premature stop codon at position 12 of the new reading frame, denoted p.Arg604GlufsX12. This likely pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the LDLR gene have been reported in Human Gene Mutation Database in association with FH (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.1808dupA variant has not been observed in large population cohorts (Lek et al., 2016).

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

Last Updated: May 1, 2024