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NM_000527.5(LDLR):c.781T>C (p.Cys261Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 25, 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:
RCV000588356.1

Allele description [Variation Report for NM_000527.5(LDLR):c.781T>C (p.Cys261Arg)]

NM_000527.5(LDLR):c.781T>C (p.Cys261Arg)

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.781T>C (p.Cys261Arg)
HGVS:
  • NC_000019.10:g.11106651T>C
  • NG_009060.1:g.22271T>C
  • NM_000527.5:c.781T>CMANE SELECT
  • NM_001195798.2:c.781T>C
  • NM_001195799.2:c.658T>C
  • NM_001195800.2:c.314-741T>C
  • NM_001195803.2:c.400T>C
  • NP_000518.1:p.Cys261Arg
  • NP_000518.1:p.Cys261Arg
  • NP_001182727.1:p.Cys261Arg
  • NP_001182728.1:p.Cys220Arg
  • NP_001182732.1:p.Cys134Arg
  • LRG_274t1:c.781T>C
  • LRG_274:g.22271T>C
  • LRG_274p1:p.Cys261Arg
  • NC_000019.9:g.11217327T>C
  • NM_000527.4:c.781T>C
Protein change:
C134R
Links:
dbSNP: rs1372739823
NCBI 1000 Genomes Browser:
rs1372739823
Molecular consequence:
  • NM_001195800.2:c.314-741T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.781T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.781T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.658T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.400T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000697250Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Aug 25, 2017) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697250.1

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

Description

Variant summary: The LDLR c.781T>C (p.Cys261Arg) variant involves the alteration of a conserved nucleotide, resulting in a missense change in one of the LDLR class A repeat domains (InterPro). 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 121396 control chromosomes (ExAC). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

Last Updated: Sep 29, 2024