U.S. flag

An official website of the United States government

NM_000527.5(LDLR):c.1496C>G (p.Ser499Cys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 20, 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:
RCV002393393.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1496C>G (p.Ser499Cys)]

NM_000527.5(LDLR):c.1496C>G (p.Ser499Cys)

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.1496C>G (p.Ser499Cys)
Other names:
NM_000527.5(LDLR):c.1496C>G; p.Ser499Cys
HGVS:
  • NC_000019.10:g.11113672C>G
  • NG_009060.1:g.29292C>G
  • NM_000527.5:c.1496C>GMANE SELECT
  • NM_001195798.2:c.1496C>G
  • NM_001195799.2:c.1373C>G
  • NM_001195800.2:c.992C>G
  • NM_001195803.2:c.1115C>G
  • NP_000518.1:p.Ser499Cys
  • NP_001182727.1:p.Ser499Cys
  • NP_001182728.1:p.Ser458Cys
  • NP_001182729.1:p.Ser331Cys
  • NP_001182732.1:p.Ser372Cys
  • LRG_274t1:c.1496C>G
  • LRG_274:g.29292C>G
  • NC_000019.9:g.11224348C>G
  • NC_000019.9:g.11224348C>G
  • NM_000527.4:c.1496C>G
Protein change:
S331C
Links:
dbSNP: rs766929574
NCBI 1000 Genomes Browser:
rs766929574
Molecular consequence:
  • NM_000527.5:c.1496C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1496C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1373C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.992C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1115C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002701296Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 20, 2020) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.

Amsellem S, Briffaut D, Carrié A, Rabès JP, Girardet JP, Fredenrich A, Moulin P, Krempf M, Reznik Y, Vialettes B, de Gennes JL, Brukert E, Benlian P.

Hum Genet. 2002 Dec;111(6):501-10. Epub 2002 Sep 13.

PubMed [citation]
PMID:
12436241

Details of each submission

From Ambry Genetics, SCV002701296.2

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

Description

The p.S499C variant (also known as c.1496C>G), located in coding exon 10 of the LDLR gene, results from a C to G substitution at nucleotide position 1496. The serine at codon 499 is replaced by cysteine, an amino acid with dissimilar properties. A different variant affecting this codon (p.S499P, c.1495T>C) has been detected in a familial hypercholesterolemia cohort (Amsellem S. Hum. Genet. . 2002 Dec;111(6):501-10). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024