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NM_000527.5(LDLR):c.95T>C (p.Phe32Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 30, 2019
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:
RCV001193786.1

Allele description [Variation Report for NM_000527.5(LDLR):c.95T>C (p.Phe32Ser)]

NM_000527.5(LDLR):c.95T>C (p.Phe32Ser)

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.95T>C (p.Phe32Ser)
HGVS:
  • NC_000019.10:g.11100250T>C
  • NG_009060.1:g.15870T>C
  • NM_000527.5:c.95T>CMANE SELECT
  • NM_001195798.2:c.95T>C
  • NM_001195799.2:c.95T>C
  • NM_001195800.2:c.95T>C
  • NM_001195803.2:c.95T>C
  • NP_000518.1:p.Phe32Ser
  • NP_001182727.1:p.Phe32Ser
  • NP_001182728.1:p.Phe32Ser
  • NP_001182729.1:p.Phe32Ser
  • NP_001182732.1:p.Phe32Ser
  • LRG_274t1:c.95T>C
  • LRG_274:g.15870T>C
  • NC_000019.9:g.11210926T>C
  • NC_000019.9:g.11210926T>C
  • NM_000527.4:c.95T>C
Protein change:
F32S
Links:
dbSNP: rs879254403
NCBI 1000 Genomes Browser:
rs879254403
Molecular consequence:
  • NM_000527.5:c.95T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.95T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.95T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.95T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.95T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001362897Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Sep 30, 2019)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Ahmad Z, Adams-Huet B, Chen C, Garg A.

Circ Cardiovasc Genet. 2012 Dec;5(6):666-75. doi: 10.1161/CIRCGENETICS.112.963587. Epub 2012 Oct 11.

PubMed [citation]
PMID:
23064986
PMCID:
PMC3774009

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001362897.1

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

Description

Variant summary: LDLR c.95T>C (p.Phe32Ser) results in a non-conservative amino acid change located in the Low-density lipoprotein (LDL) receptor class A repeat of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251156 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.95T>C has been reported in the literature in an individual affected with hypercholesterolemia (Ahmad_2012). This report does not provide unequivocal conclusions about association of the variant with Early Onset Coronary Artery Disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: May 7, 2024