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NM_000527.5(LDLR):c.1053A>G (p.Arg351=) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 19, 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:
RCV002405888.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1053A>G (p.Arg351=)]

NM_000527.5(LDLR):c.1053A>G (p.Arg351=)

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.1053A>G (p.Arg351=)
HGVS:
  • NC_000019.10:g.11110764A>G
  • NG_009060.1:g.26384A>G
  • NM_000527.5:c.1053A>GMANE SELECT
  • NM_001195798.2:c.1053A>G
  • NM_001195799.2:c.930A>G
  • NM_001195800.2:c.549A>G
  • NM_001195803.2:c.672A>G
  • NP_000518.1:p.Arg351=
  • NP_000518.1:p.Arg351=
  • NP_001182727.1:p.Arg351=
  • NP_001182728.1:p.Arg310=
  • NP_001182729.1:p.Arg183=
  • NP_001182732.1:p.Arg224=
  • LRG_274t1:c.1053A>G
  • LRG_274:g.26384A>G
  • LRG_274p1:p.Arg351=
  • NC_000019.9:g.11221440A>G
  • NM_000527.4:c.1053A>G
Molecular consequence:
  • NM_000527.5:c.1053A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195798.2:c.1053A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195799.2:c.930A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195800.2:c.549A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001195803.2:c.672A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002706154Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 19, 2018) 		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, SCV002706154.2

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

Description

The c.1053A>G variant (also known as p.R351R), located in coding exon 7, results from an A to G substitution at nucleotide position 1053 of the LDLR gene. This nucleotide substitution does not change the amino acid at codon 351. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and Human Splicing Finder (HSF) splice site prediction tools, this alteration is predicted to create a new alternate splice donor site; however, direct evidence is unavailable (Desmet FO et al. Nucleic Acids Res. 2009;37:e67). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024