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NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 12, 2022
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:
RCV002255136.3

Allele description [Variation Report for NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)]

NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)

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.796G>A (p.Asp266Asn)
Other names:
NM_000527.5(LDLR):c.796G>A
HGVS:
  • NC_000019.10:g.11106666G>A
  • NG_009060.1:g.22286G>A
  • NM_000527.5:c.796G>AMANE SELECT
  • NM_001195798.2:c.796G>A
  • NM_001195799.2:c.673G>A
  • NM_001195800.2:c.314-726G>A
  • NM_001195803.2:c.415G>A
  • NP_000518.1:p.Asp266Asn
  • NP_000518.1:p.Asp266Asn
  • NP_001182727.1:p.Asp266Asn
  • NP_001182728.1:p.Asp225Asn
  • NP_001182732.1:p.Asp139Asn
  • LRG_274t1:c.796G>A
  • LRG_274:g.22286G>A
  • NC_000019.9:g.11217342G>A
  • NM_000527.4(LDLR):c.796G>A
  • NM_000527.4:c.796G>A
  • c.796G>A
Protein change:
D139N
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000469; dbSNP: rs875989907
NCBI 1000 Genomes Browser:
rs875989907
Molecular consequence:
  • NM_001195800.2:c.314-726G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.796G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.796G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.673G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002526553GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Sep 12, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002526553.3

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

Description

Disrupts a negatively charged triplet, Ser-Asp-Glu, located at the carboxyl-terminal end of the LDL- receptor class A6 repeat domain that is critical for ligand binding (Schneider et al., 2003); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as FH-Tozeur and p.(D245N); This variant is associated with the following publications: (PMID: 34037665, 30241732, 32331935, 12827279, 23375686, 31447099, 31491741, 33740630, 11810272, 32977124, 12414836, 31386798, 15199436, 14974088, 19446849, 21310417, 22698793, 15823288, 22417841, 26582918, 12417285)

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

Last Updated: Sep 29, 2024