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NM_000527.5(LDLR):c.388T>C (p.Ser130Pro) AND Hypercholesterolemia, familial, 1

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Nov 5, 2016
Review status:
criteria provided, conflicting classifications
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:
RCV000237659.4

Allele description [Variation Report for NM_000527.5(LDLR):c.388T>C (p.Ser130Pro)]

NM_000527.5(LDLR):c.388T>C (p.Ser130Pro)

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.388T>C (p.Ser130Pro)
HGVS:
  • NC_000019.10:g.11105294T>C
  • NG_009060.1:g.20914T>C
  • NM_000527.5:c.388T>CMANE SELECT
  • NM_001195798.2:c.388T>C
  • NM_001195799.2:c.265T>C
  • NM_001195800.2:c.314-2098T>C
  • NM_001195803.2:c.314-1271T>C
  • NP_000518.1:p.Ser130Pro
  • NP_000518.1:p.Ser130Pro
  • NP_001182727.1:p.Ser130Pro
  • NP_001182728.1:p.Ser89Pro
  • LRG_274t1:c.388T>C
  • LRG_274:g.20914T>C
  • LRG_274p1:p.Ser130Pro
  • NC_000019.9:g.11215970T>C
  • NM_000527.4:c.388T>C
  • c.388T>C
Protein change:
S130P
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000985; dbSNP: rs879254508
NCBI 1000 Genomes Browser:
rs879254508
Molecular consequence:
  • NM_001195800.2:c.314-2098T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1271T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.388T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.388T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.265T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Name:
Hypercholesterolemia, familial, 1
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000294679LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

(ACGS Guidelines, 2013)		Likely benign
(Mar 25, 2016) 		germlineliterature only

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

Citation Link,

SCV000540730Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 5, 2016) 		inheritedclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedliterature only
Caucasianinheritedyes64not provided3964yesclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

Tichý L, Freiberger T, Zapletalová P, Soška V, Ravčuková B, Fajkusová L.

Atherosclerosis. 2012 Aug;223(2):401-8. doi: 10.1016/j.atherosclerosis.2012.05.014. Epub 2012 May 23.

PubMed [citation]
PMID:
22698793
See all PubMed Citations (3)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294679.2

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

From Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, SCV000540730.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian6not providedyesclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes3964Whole bloodnot provided6not provided4not provided

Last Updated: Feb 4, 2024