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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 16, 2021
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:
RCV002379750.2

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)

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
SCV002695693Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 16, 2021) 		germlineclinical testing

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

Citation Link

Help

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 Ambry Genetics, SCV002695693.2

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

Description

The p.F32S variant (also known as c.95T>C), located in coding exon 2 of the LDLR gene, results from a T to C substitution at nucleotide position 95. The phenylalanine at codon 32 is replaced by serine, an amino acid with highly dissimilar properties. This alteration, also known as p.F11S, has been reported in a familial hypercholesterolemia (FH) cohort (Ahmad Z et al. Circ Cardiovasc Genet, 2012 Dec;5:666-75). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024