NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 18, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001582801.3

Allele description [Variation Report for NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)]

NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)

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.292G>A (p.Gly98Ser)
HGVS:
  • NC_000019.10:g.11102765G>A
  • NG_009060.1:g.18385G>A
  • NM_000527.4:c.292G>A
  • NM_000527.5:c.292G>AMANE SELECT
  • NM_001195798.2:c.292G>A
  • NM_001195799.2:c.190+2420G>A
  • NM_001195800.2:c.292G>A
  • NM_001195803.2:c.292G>A
  • NP_000518.1:p.Gly98Ser
  • NP_000518.1:p.Gly98Ser
  • NP_001182727.1:p.Gly98Ser
  • NP_001182729.1:p.Gly98Ser
  • NP_001182732.1:p.Gly98Ser
  • LRG_274t1:c.292G>A
  • LRG_274:g.18385G>A
  • LRG_274p1:p.Gly98Ser
  • NC_000019.9:g.11213441G>A
  • c.292G>A
Protein change:
G98S
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001032; dbSNP: rs750474121
NCBI 1000 Genomes Browser:
rs750474121
Molecular consequence:
  • NM_001195799.2:c.190+2420G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.4:c.292G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.292G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.292G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.292G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.292G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001812175GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 18, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001812175.1

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32041611, 30971288, 28645073, 16250003, 27919364, 30637778, 30526649, 30333156)

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

Last Updated: Nov 6, 2021

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