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NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 23, 2020
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:
RCV001800609.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys)]

NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys)

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.1727A>G (p.Tyr576Cys)
HGVS:
  • NC_000019.10:g.11116880A>G
  • NG_009060.1:g.32500A>G
  • NM_000527.5:c.1727A>GMANE SELECT
  • NM_001195798.2:c.1727A>G
  • NM_001195799.2:c.1604A>G
  • NM_001195800.2:c.1223A>G
  • NM_001195803.2:c.1346A>G
  • NP_000518.1:p.Tyr576Cys
  • NP_001182727.1:p.Tyr576Cys
  • NP_001182728.1:p.Tyr535Cys
  • NP_001182729.1:p.Tyr408Cys
  • NP_001182732.1:p.Tyr449Cys
  • LRG_274t1:c.1727A>G
  • LRG_274:g.32500A>G
  • NC_000019.9:g.11227556A>G
  • NM_000527.4:c.1727A>G
  • c.1727A>G
Protein change:
Y408C
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001503; dbSNP: rs879254999
NCBI 1000 Genomes Browser:
rs879254999
Molecular consequence:
  • NM_000527.5:c.1727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1223A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1346A>G - 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
SCV002046506Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Dec 23, 2020) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.

Leren TP, Manshaus T, Skovholt U, Skodje T, Nossen IE, Teie C, Sørensen S, Bakken KS.

Semin Vasc Med. 2004 Feb;4(1):75-85. Review.

PubMed [citation]
PMID:
15199436

The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population.

Damgaard D, Larsen ML, Nissen PH, Jensen JM, Jensen HK, Soerensen VR, Jensen LG, Faergeman O.

Atherosclerosis. 2005 May;180(1):155-60. Epub 2005 Jan 12.

PubMed [citation]
PMID:
15823288
See all PubMed Citations (4)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046506.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant has been reported in a significant number of individuals with familial hypercholesterolemia in the published literature (PMID: 15199436 (2004), 15823288 (2005), 32706999 (2020)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Therefore, the variant is classified as pathogenic.

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

Last Updated: Sep 29, 2024