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NM_000527.5(LDLR):c.1821C>G (p.His607Gln) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 24, 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:
RCV002410359.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1821C>G (p.His607Gln)]

NM_000527.5(LDLR):c.1821C>G (p.His607Gln)

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.1821C>G (p.His607Gln)
HGVS:
  • NC_000019.10:g.11116974C>G
  • NG_009060.1:g.32594C>G
  • NM_000527.5:c.1821C>GMANE SELECT
  • NM_001195798.2:c.1821C>G
  • NM_001195799.2:c.1698C>G
  • NM_001195800.2:c.1317C>G
  • NM_001195803.2:c.1440C>G
  • NP_000518.1:p.His607Gln
  • NP_000518.1:p.His607Gln
  • NP_001182727.1:p.His607Gln
  • NP_001182728.1:p.His566Gln
  • NP_001182729.1:p.His439Gln
  • NP_001182732.1:p.His480Gln
  • LRG_274t1:c.1821C>G
  • LRG_274:g.32594C>G
  • LRG_274p1:p.His607Gln
  • NC_000019.9:g.11227650C>G
  • NM_000527.4:c.1821C>G
Protein change:
H439Q
Molecular consequence:
  • NM_000527.5:c.1821C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1821C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1698C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1317C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1440C>G - 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
SCV002711078Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 24, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002711078.2

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

Description

The p.H607Q variant (also known as c.1821C>G), located in coding exon 12 of the LDLR gene, results from a C to G substitution at nucleotide position 1821. The histidine at codon 607 is replaced by glutamine, an amino acid with highly similar properties. 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 1, 2024