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NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 3, 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:
RCV000587603.1

Allele description [Variation Report for NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala)]

NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala)

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.2273G>C (p.Gly758Ala)
HGVS:
  • NC_000019.10:g.11123306G>C
  • NG_009060.1:g.38926G>C
  • NM_000527.5:c.2273G>CMANE SELECT
  • NM_001195798.2:c.2273G>C
  • NM_001195799.2:c.2150G>C
  • NM_001195800.2:c.1769G>C
  • NM_001195803.2:c.1739G>C
  • NP_000518.1:p.Gly758Ala
  • NP_000518.1:p.Gly758Ala
  • NP_001182727.1:p.Gly758Ala
  • NP_001182728.1:p.Gly717Ala
  • NP_001182729.1:p.Gly590Ala
  • NP_001182732.1:p.Gly580Ala
  • LRG_274t1:c.2273G>C
  • LRG_274:g.38926G>C
  • LRG_274p1:p.Gly758Ala
  • NC_000019.9:g.11233982G>C
  • NM_000527.4:c.2273G>C
Protein change:
G580A
Links:
dbSNP: rs748540948
NCBI 1000 Genomes Browser:
rs748540948
Molecular consequence:
  • NM_000527.5:c.2273G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.2273G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.2150G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1769G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1739G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000697224Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Aug 3, 2017) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697224.1

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

Description

Variant summary: The LDLR c.2273G>C (p.Gly758Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in the large control database ExAC in 2/120684 control chromosomes at a frequency of 0.0000166, which does not exceed the estimated maximal expected allele frequency of a pathogenic LDLR variant (0.0012508). 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).

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

Last Updated: Feb 7, 2023