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NM_000527.5(LDLR):c.397G>T (p.Asp133Tyr) AND Hypercholesterolemia, familial, 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 14, 2023
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:
RCV003224966.1

Allele description [Variation Report for NM_000527.5(LDLR):c.397G>T (p.Asp133Tyr)]

NM_000527.5(LDLR):c.397G>T (p.Asp133Tyr)

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.397G>T (p.Asp133Tyr)
HGVS:
  • NC_000019.10:g.11105303G>T
  • NG_009060.1:g.20923G>T
  • NG_140410.1:g.520G>T
  • NM_000527.5:c.397G>TMANE SELECT
  • NM_001195798.2:c.397G>T
  • NM_001195799.2:c.274G>T
  • NM_001195800.2:c.314-2089G>T
  • NM_001195803.2:c.314-1262G>T
  • NP_000518.1:p.Asp133Tyr
  • NP_000518.1:p.Asp133Tyr
  • NP_001182727.1:p.Asp133Tyr
  • NP_001182728.1:p.Asp92Tyr
  • LRG_274t1:c.397G>T
  • LRG_274:g.20923G>T
  • LRG_274p1:p.Asp133Tyr
  • NC_000019.9:g.11215979G>T
  • NM_000527.4:c.397G>T
Protein change:
D133Y
Molecular consequence:
  • NM_001195800.2:c.314-2089G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1262G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.397G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.397G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.274G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003921016Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 14, 2023) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical 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

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV003921016.1

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

Description

_x000D_This variant was identified as compound heterozygous with NM_000527.5:c.2167del. Criteria applied: PM1, PM2_SUP, PM5_SUP, PP3, PP4

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

Last Updated: Aug 5, 2023