U.S. flag

An official website of the United States government

NM_000527.5(LDLR):c.1154T>C (p.Leu385Pro) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 5, 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:
RCV002358394.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1154T>C (p.Leu385Pro)]

NM_000527.5(LDLR):c.1154T>C (p.Leu385Pro)

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.1154T>C (p.Leu385Pro)
Other names:
NM_000527.5(LDLR):c.1154T>C; p.Leu385Pro
HGVS:
  • NC_000019.10:g.11111607T>C
  • NG_009060.1:g.27227T>C
  • NM_000527.5:c.1154T>CMANE SELECT
  • NM_001195798.2:c.1154T>C
  • NM_001195799.2:c.1031T>C
  • NM_001195800.2:c.650T>C
  • NM_001195803.2:c.773T>C
  • NP_000518.1:p.Leu385Pro
  • NP_000518.1:p.Leu385Pro
  • NP_001182727.1:p.Leu385Pro
  • NP_001182728.1:p.Leu344Pro
  • NP_001182729.1:p.Leu217Pro
  • NP_001182732.1:p.Leu258Pro
  • LRG_274t1:c.1154T>C
  • LRG_274:g.27227T>C
  • LRG_274p1:p.Leu385Pro
  • NC_000019.9:g.11222283T>C
  • NM_000527.4:c.1154T>C
Protein change:
L217P
Links:
dbSNP: rs879254809
NCBI 1000 Genomes Browser:
rs879254809
Molecular consequence:
  • NM_000527.5:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.650T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.773T>C - 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
SCV002620124Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 5, 2020) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C; French ADH Research Network., Boileau C, Varret M, Rabès JP.

Hum Mutat. 2010 Nov;31(11):E1811-24. doi: 10.1002/humu.21348.

PubMed [citation]
PMID:
20809525
PMCID:
PMC3152176

Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa.

Kotze MJ, Peeters AV, Loubser O, Theart L, du Plessis L, Hayes VM, de Jong G, de Villiers JN, Lombard CJ, Hansen PS, Raal FJ.

Clin Genet. 1998 Jul;54(1):74-8.

PubMed [citation]
PMID:
9727745

Details of each submission

From Ambry Genetics, SCV002620124.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.L385P variant (also known as c.1154T>C), located in coding exon 8 of the LDLR gene, results from a T to C substitution at nucleotide position 1154. The leucine at codon 385 is replaced by proline, an amino acid with similar properties, and is located in an EGF-like domain. Other variants affecting this codon (p.L385R, c.1154T>G and p.L385V, c.1153C>G) have been detected in hypercholesterolemia cohorts (Kotze MJ et al. Clin. Genet., 1998 Jul;54:74-8; Marduel M et al. Hum. Mutat., 2010 Nov;31:E1811-24). This amino acid position is not well 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: May 1, 2024