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NM_000527.5(LDLR):c.1221C>A (p.His407Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 26, 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:
RCV003738299.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1221C>A (p.His407Gln)]

NM_000527.5(LDLR):c.1221C>A (p.His407Gln)

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.1221C>A (p.His407Gln)
HGVS:
  • NC_000019.10:g.11113312C>A
  • NG_009060.1:g.28932C>A
  • NM_000527.5:c.1221C>AMANE SELECT
  • NM_001195798.2:c.1221C>A
  • NM_001195799.2:c.1098C>A
  • NM_001195800.2:c.717C>A
  • NM_001195803.2:c.840C>A
  • NP_000518.1:p.His407Gln
  • NP_000518.1:p.His407Gln
  • NP_001182727.1:p.His407Gln
  • NP_001182728.1:p.His366Gln
  • NP_001182729.1:p.His239Gln
  • NP_001182732.1:p.His280Gln
  • LRG_274t1:c.1221C>A
  • LRG_274:g.28932C>A
  • LRG_274p1:p.His407Gln
  • NC_000019.9:g.11223988C>A
  • NM_000527.4:c.1221C>A
Protein change:
H239Q
Molecular consequence:
  • NM_000527.5:c.1221C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1221C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1098C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.717C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.840C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004565147ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Uncertain significance
(May 26, 2023) 		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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004565147.1

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

Description

The LDLR c.1221C>A; p.His407Gln variant (rs778424518), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the Latino/Admixed American population with an allele frequency of 0.0145% (5/34,582 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.599). Due to limited information, the clinical significance of this variant is uncertain at this time.

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

Last Updated: Feb 28, 2024