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NM_000527.5(LDLR):c.367T>C (p.Ser123Pro) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 6, 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:
RCV003165664.2

Allele description [Variation Report for NM_000527.5(LDLR):c.367T>C (p.Ser123Pro)]

NM_000527.5(LDLR):c.367T>C (p.Ser123Pro)

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.367T>C (p.Ser123Pro)
HGVS:
  • NC_000019.10:g.11105273T>C
  • NG_009060.1:g.20893T>C
  • NM_000527.5:c.367T>CMANE SELECT
  • NM_001195798.2:c.367T>C
  • NM_001195799.2:c.244T>C
  • NM_001195800.2:c.314-2119T>C
  • NM_001195803.2:c.314-1292T>C
  • NP_000518.1:p.Ser123Pro
  • NP_000518.1:p.Ser123Pro
  • NP_001182727.1:p.Ser123Pro
  • NP_001182728.1:p.Ser82Pro
  • LRG_274t1:c.367T>C
  • LRG_274:g.20893T>C
  • LRG_274p1:p.Ser123Pro
  • NC_000019.9:g.11215949T>C
  • NM_000527.4:c.367T>C
  • c.367T>C
  • p.(Ser123Pro)
Protein change:
S123P
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001226; dbSNP: rs879254495
NCBI 1000 Genomes Browser:
rs879254495
Molecular consequence:
  • NM_001195800.2:c.314-2119T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1292T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.244T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003912560Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Dec 6, 2022)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.

Guardamagna O, Restagno G, Rolfo E, Pederiva C, Martini S, Abello F, Baracco V, Pisciotta L, Pino E, Calandra S, Bertolini S.

J Pediatr. 2009 Aug;155(2):199-204.e2. doi: 10.1016/j.jpeds.2009.02.022. Epub 2009 May 15.

PubMed [citation]
PMID:
19446849

Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy.

Romano M, Di Taranto MD, D'Agostino MN, Marotta G, Gentile M, Abate G, Mirabelli P, Di Noto R, Del Vecchio L, Rubba P, Fortunato G.

Atherosclerosis. 2010 Jun;210(2):493-6. doi: 10.1016/j.atherosclerosis.2009.11.051. Epub 2009 Dec 5.

PubMed [citation]
PMID:
20045108
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV003912560.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

The p.S123P variant (also known as c.367T>C), located in coding exon 4 of the LDLR gene, results from a T to C substitution at nucleotide position 367. The serine at codon 123 is replaced by proline, an amino acid with similar properties. This alteration has been reported in familial hypercholesterolemia (FH) cohorts; however, clinical details were limited (Guardamagna O et al. J Pediatr, 2009 Aug;155:199-204.e2; Romano M et al. Atherosclerosis, 2010 Jun;210:493-6). This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: Sep 29, 2024