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NM_000527.5(LDLR):c.373C>A (p.Gln125Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 22, 2022
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:
RCV002517449.1

Allele description [Variation Report for NM_000527.5(LDLR):c.373C>A (p.Gln125Lys)]

NM_000527.5(LDLR):c.373C>A (p.Gln125Lys)

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.373C>A (p.Gln125Lys)
HGVS:
  • NC_000019.10:g.11105279C>A
  • NG_009060.1:g.20899C>A
  • NM_000527.5:c.373C>AMANE SELECT
  • NM_001195798.2:c.373C>A
  • NM_001195799.2:c.250C>A
  • NM_001195800.2:c.314-2113C>A
  • NM_001195803.2:c.314-1286C>A
  • NP_000518.1:p.Gln125Lys
  • NP_000518.1:p.Gln125Lys
  • NP_001182727.1:p.Gln125Lys
  • NP_001182728.1:p.Gln84Lys
  • LRG_274t1:c.373C>A
  • LRG_274:g.20899C>A
  • LRG_274p1:p.Gln125Lys
  • NC_000019.9:g.11215955C>A
  • NM_000527.4:c.373C>A
  • c.373C>A
Protein change:
Q125K
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001716; dbSNP: rs875989899
NCBI 1000 Genomes Browser:
rs875989899
Molecular consequence:
  • NM_001195800.2:c.314-2113C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1286C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.373C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.373C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.250C>A - 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
SCV003195013GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jul 22, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV003195013.1

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

Description

Identified in a cohort of individuals with familial hypercholesterolemia, although zygosity and patient specific clinical information were not provided (Hooper et al., 2012); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30583242, 34906454, 22883975)

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

Last Updated: Aug 5, 2023