NM_000527.5(LDLR):c.632_634del (p.His211_Ser212delinsPro) AND Familial hypercholesterolemia 1

Clinical significance:Likely pathogenic (Last evaluated: Mar 25, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000238022.2

Allele description [Variation Report for NM_000527.5(LDLR):c.632_634del (p.His211_Ser212delinsPro)]

NM_000527.5(LDLR):c.632_634del (p.His211_Ser212delinsPro)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.632_634del (p.His211_Ser212delinsPro)
HGVS:
  • NC_000019.10:g.11105538_11105540del
  • NG_009060.1:g.21158_21160del
  • NM_000527.4:c.632_634del
  • NM_000527.5:c.632_634delMANE SELECT
  • NM_001195798.2:c.632_634del
  • NM_001195799.2:c.509_511del
  • NM_001195800.2:c.314-1854_314-1852del
  • NM_001195803.2:c.314-1027_314-1025del
  • NP_000518.1:p.His211_Ser212delinsPro
  • NP_000518.1:p.His211_Ser212delinsPro
  • NP_001182727.1:p.His211_Ser212delinsPro
  • NP_001182728.1:p.His170_Ser171delinsPro
  • LRG_274t1:c.632_634del
  • LRG_274:g.21158_21160del
  • NC_000019.9:g.11216214_11216216del
  • c.632_634del
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001779; dbSNP: rs879254602
NCBI 1000 Genomes Browser:
rs879254602
Molecular consequence:
  • NM_000527.4:c.632_634del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_000527.5:c.632_634del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001195798.2:c.632_634del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001195799.2:c.509_511del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001195800.2:c.314-1854_314-1852del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1027_314-1025del - intron variant - [Sequence Ontology: SO:0001627]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000294835LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Likely pathogenic
(Mar 25, 2016)
germlineliterature only

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

Citation Link,

SCV000599338Cardiovascular 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 providedgermlineyes1not providednot provided1not 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

Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.

Sun XM, Patel DD, Webb JC, Knight BL, Fan LM, Cai HJ, Soutar AK.

Arterioscler Thromb. 1994 Jan;14(1):85-94.

PubMed [citation]
PMID:
7903864

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294835.2

#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, SCV000599338.1

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

Description

"Assay Description:Heterologous cells (COS), immunoblot"
#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: Aug 29, 2020

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