NM_000527.5(LDLR):c.367T>C (p.Ser123Pro) AND Familial hypercholesterolemia 1

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Likely pathogenic(1) (Last evaluated: May 24, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000237827.2

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]
Observations:
2

Condition(s)

Name:
Familial hypercholesterolemia 1 (FHCL1)
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000294662LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Likely benign
(Mar 25, 2016)
germlineliterature only

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

Citation Link,

SCV001653589Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico IIcriteria provided, single submitter
Likely pathogenic
(May 24, 2021)
germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedliterature only
Caucasiangermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

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

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
See all PubMed Citations (8)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294662.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

From Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II, SCV001653589.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian2not providednot providedclinical testing PubMed (7)

Description

Reduced activity, in stimulated T- and EBV-transformed B-lymphocytes (with c.1478_1479delCT).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Dec 4, 2021

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