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NM_000527.5(LDLR):c.1417A>G (p.Ile473Val) AND Hypercholesterolemia, familial, 1

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Mar 25, 2016
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000237941.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1417A>G (p.Ile473Val)]

NM_000527.5(LDLR):c.1417A>G (p.Ile473Val)

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.1417A>G (p.Ile473Val)
HGVS:
  • NC_000019.10:g.11113593A>G
  • NG_009060.1:g.29213A>G
  • NM_000527.5:c.1417A>GMANE SELECT
  • NM_001195798.2:c.1417A>G
  • NM_001195799.2:c.1294A>G
  • NM_001195800.2:c.913A>G
  • NM_001195803.2:c.1036A>G
  • NP_000518.1:p.Ile473Val
  • NP_000518.1:p.Ile473Val
  • NP_001182727.1:p.Ile473Val
  • NP_001182728.1:p.Ile432Val
  • NP_001182729.1:p.Ile305Val
  • NP_001182732.1:p.Ile346Val
  • LRG_274t1:c.1417A>G
  • LRG_274:g.29213A>G
  • LRG_274p1:p.Ile473Val
  • NC_000019.9:g.11224269A>G
  • NM_000527.4:c.1417A>G
  • c.1417A>G
Protein change:
I305V
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001424; dbSNP: rs879254894
NCBI 1000 Genomes Browser:
rs879254894
Molecular consequence:
  • NM_000527.5:c.1417A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1417A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1036A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypercholesterolemia, familial, 1
Synonyms:
LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000295419LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

(ACGS Guidelines, 2013)		Likely benign
(Mar 25, 2016) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV000322951Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Mar 1, 2016) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedresearch, literature only

Citations

PubMed

Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.

Medeiros AM, Alves AC, Bourbon M.

Genet Med. 2016 Apr;18(4):316-24. doi: 10.1038/gim.2015.71. Epub 2015 May 28.

PubMed [citation]
PMID:
26020417

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295419.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

From Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge, SCV000322951.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
2not providednot providednot providednot providedresearch PubMed (1)

Description

Heterologous cells (CHO), FACS assays

Description

0/208 non-FH alleles

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided
2germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023