NM_000527.5(LDLR):c.2056C>G (p.Gln686Glu) AND Hypercholesterolemia, familial, 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 16, 2016
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:
RCV000417286.2

Allele description [Variation Report for NM_000527.5(LDLR):c.2056C>G (p.Gln686Glu)]

NM_000527.5(LDLR):c.2056C>G (p.Gln686Glu)

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.2056C>G (p.Gln686Glu)
HGVS:
  • NC_000019.10:g.11120438C>G
  • NG_009060.1:g.36058C>G
  • NM_000527.5:c.2056C>GMANE SELECT
  • NM_001195798.2:c.2056C>G
  • NM_001195799.2:c.1933C>G
  • NM_001195800.2:c.1552C>G
  • NM_001195803.2:c.1606+205C>G
  • NP_000518.1:p.Gln686Glu
  • NP_000518.1:p.Gln686Glu
  • NP_001182727.1:p.Gln686Glu
  • NP_001182728.1:p.Gln645Glu
  • NP_001182729.1:p.Gln518Glu
  • LRG_274t1:c.2056C>G
  • LRG_274:g.36058C>G
  • LRG_274p1:p.Gln686Glu
  • NC_000019.9:g.11231114C>G
  • NM_000527.4:c.2056C>G
Protein change:
Q518E
Links:
dbSNP: rs879255126
NCBI 1000 Genomes Browser:
rs879255126
Molecular consequence:
  • NM_001195803.2:c.1606+205C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.2056C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.2056C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1933C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1552C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hypercholesterolemia, familial, 1
Synonyms:
LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000503456Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 16, 2016) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided2600not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix, SCV000503456.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

subject mutated among 2600 FH index cases screened = 1 , family member = 1 with co-segregation/Software predictions: Conflicting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes2600not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024