U.S. flag

An official website of the United States government

NM_000527.5(LDLR):c.1317T>G (p.Asn439Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 25, 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:
RCV003477855.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1317T>G (p.Asn439Lys)]

NM_000527.5(LDLR):c.1317T>G (p.Asn439Lys)

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.1317T>G (p.Asn439Lys)
HGVS:
  • NC_000019.10:g.11113408T>G
  • NG_009060.1:g.29028T>G
  • NM_000527.5:c.1317T>GMANE SELECT
  • NM_001195798.2:c.1317T>G
  • NM_001195799.2:c.1194T>G
  • NM_001195800.2:c.813T>G
  • NM_001195803.2:c.936T>G
  • NP_000518.1:p.Asn439Lys
  • NP_001182727.1:p.Asn439Lys
  • NP_001182728.1:p.Asn398Lys
  • NP_001182729.1:p.Asn271Lys
  • NP_001182732.1:p.Asn312Lys
  • LRG_274t1:c.1317T>G
  • LRG_274:g.29028T>G
  • NC_000019.9:g.11224084T>G
  • NM_000527.4:c.1317T>G
  • c.1317T>G
Protein change:
N271K
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001395; dbSNP: rs879254860
NCBI 1000 Genomes Browser:
rs879254860
Molecular consequence:
  • NM_000527.5:c.1317T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1317T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1194T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.813T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.936T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004219942Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Jan 25, 2023) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

Alonso R, Defesche JC, Tejedor D, Castillo S, Stef M, Mata N, Gomez-Enterria P, Martinez-Faedo C, Forga L, Mata P.

Clin Biochem. 2009 Jun;42(9):899-903. doi: 10.1016/j.clinbiochem.2009.01.017. Epub 2009 Feb 6.

PubMed [citation]
PMID:
19318025

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004219942.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

It has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant is reported in the published literature (PMID: 19318025 (2009)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is deleterious or benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Sep 1, 2024