NM_000527.4(LDLR):c.1907G>T (p.Gly636Val) AND Familial hypercholesterolemia 1

Clinical significance:Likely pathogenic (Last evaluated: Mar 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000505212.1

Allele description [Variation Report for NM_000527.4(LDLR):c.1907G>T (p.Gly636Val)]

NM_000527.4(LDLR):c.1907G>T (p.Gly636Val)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.4(LDLR):c.1907G>T (p.Gly636Val)
HGVS:
  • NC_000019.10:g.11120153G>T
  • NG_009060.1:g.35773G>T
  • NM_000527.4:c.1907G>T
  • NM_001195798.2:c.1907G>T
  • NM_001195799.2:c.1784G>T
  • NM_001195800.2:c.1403G>T
  • NM_001195803.2:c.1526G>T
  • NP_000518.1:p.Gly636Val
  • NP_001182727.1:p.Gly636Val
  • NP_001182728.1:p.Gly595Val
  • NP_001182729.1:p.Gly468Val
  • NP_001182732.1:p.Gly509Val
  • LRG_274t1:c.1907G>T
  • LRG_274:g.35773G>T
  • LRG_274p1:p.Gly636Val
  • NC_000019.9:g.11230829G>T
Protein change:
G468V
Links:
dbSNP: rs879255072
NCBI 1000 Genomes Browser:
rs879255072
Molecular consequence:
  • NM_000527.4:c.1907G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1907G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1784G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1403G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1526G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypercholesterolemia 1 (FHCL1)
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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000599399Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorgecriteria provided, single submitter
Likely pathogenic
(Mar 1, 2016)
germline, not applicablecuration, literature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

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

Functional characterization of two low-density lipoprotein receptor gene mutations in two Chinese patients with familial hypercholesterolemia.

Wang H, Xu S, Sun L, Pan X, Yang S, Wang L.

PLoS One. 2014;9(3):e92703. doi: 10.1371/journal.pone.0092703.

PubMed [citation]
PMID:
24671153
PMCID:
PMC3966815

Details of each submission

From Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge, SCV000599399.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
2not providednot providednot providednot providedliterature only PubMed (2)

Description

"Assay Description:Heterologous cells (HEK-293), FACS assays, CLSM assays"
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 25, 2020

Support Center