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NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 11, 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:
RCV002392739.2

Allele description [Variation Report for NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)]

NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)

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.148G>A (p.Ala50Thr)
HGVS:
  • NC_000019.10:g.11100303G>A
  • NG_009060.1:g.15923G>A
  • NM_000527.5:c.148G>AMANE SELECT
  • NM_001195798.2:c.148G>A
  • NM_001195799.2:c.148G>A
  • NM_001195800.2:c.148G>A
  • NM_001195803.2:c.148G>A
  • NP_000518.1:p.Ala50Thr
  • NP_000518.1:p.Ala50Thr
  • NP_001182727.1:p.Ala50Thr
  • NP_001182728.1:p.Ala50Thr
  • NP_001182729.1:p.Ala50Thr
  • NP_001182732.1:p.Ala50Thr
  • LRG_274t1:c.148G>A
  • LRG_274:g.15923G>A
  • LRG_274p1:p.Ala50Thr
  • NC_000019.9:g.11210979G>A
  • NM_000527.4:c.148G>A
  • P01130:p.Ala50Thr
  • c.148G>A
Protein change:
A50T
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000495; UniProtKB: P01130#VAR_072827; dbSNP: rs137853960
NCBI 1000 Genomes Browser:
rs137853960
Molecular consequence:
  • NM_000527.5:c.148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.148G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002698726Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Aug 11, 2022) 		germlineclinical testing

PubMed (7)
[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

Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.

Loubser O, Marais AD, Kotze MJ, Godenir N, Thiart R, Scholtz CL, de Villiers JN, Hillermann R, Firth JC, Weich HF, Maritz F, Jones S, van der Westhuyzen DR.

Clin Genet. 1999 May;55(5):340-5.

PubMed [citation]
PMID:
10422804

Clinical versus molecular diagnosis of heterozygous familial hypercholesterolaemia in the diverse South African population.

Vergotine J, Thiart R, Kotze MJ.

S Afr Med J. 2001 Dec;91(12):1053-9.

PubMed [citation]
PMID:
11845603
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV002698726.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024