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NM_000527.5(LDLR):c.1700C>A (p.Thr567Asn) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 8, 2024
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:
RCV004024676.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1700C>A (p.Thr567Asn)]

NM_000527.5(LDLR):c.1700C>A (p.Thr567Asn)

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.1700C>A (p.Thr567Asn)
HGVS:
  • NC_000019.10:g.11116207C>A
  • NG_009060.1:g.31827C>A
  • NM_000527.5:c.1700C>AMANE SELECT
  • NM_001195798.2:c.1700C>A
  • NM_001195799.2:c.1577C>A
  • NM_001195800.2:c.1196C>A
  • NM_001195803.2:c.1319C>A
  • NP_000518.1:p.Thr567Asn
  • NP_000518.1:p.Thr567Asn
  • NP_001182727.1:p.Thr567Asn
  • NP_001182728.1:p.Thr526Asn
  • NP_001182729.1:p.Thr399Asn
  • NP_001182732.1:p.Thr440Asn
  • LRG_274t1:c.1700C>A
  • LRG_274:g.31827C>A
  • LRG_274p1:p.Thr567Asn
  • NC_000019.9:g.11226883C>A
  • NM_000527.4:c.1700C>A
Protein change:
T399N
Links:
dbSNP: rs1555806098
NCBI 1000 Genomes Browser:
rs1555806098
Molecular consequence:
  • NM_000527.5:c.1700C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1700C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1577C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1196C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1319C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005035979Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 8, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005035979.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.T567N variant (also known as c.1700C>A), located in coding exon 11 of the LDLR gene, results from a C to A substitution at nucleotide position 1700. The threonine at codon 567 is replaced by asparagine, an amino acid with similar properties. This variant has been observed in at least one individual with a personal and/or family history that is consistent with familial hypercholesterolemia (Ambry internal data). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, 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