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NM_000527.5(LDLR):c.581_582insA (p.Ser194fs) AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic (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:
RCV000238060.3

Allele description [Variation Report for NM_000527.5(LDLR):c.581_582insA (p.Ser194fs)]

NM_000527.5(LDLR):c.581_582insA (p.Ser194fs)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.581_582insA (p.Ser194fs)
HGVS:
  • NC_000019.10:g.11105487_11105488insA
  • NG_009060.1:g.21107_21108insA
  • NM_000527.5:c.581_582insAMANE SELECT
  • NM_001195798.2:c.581_582insA
  • NM_001195799.2:c.458_459insA
  • NM_001195800.2:c.314-1905_314-1904insA
  • NM_001195803.2:c.314-1078_314-1077insA
  • NP_000518.1:p.Ser194fs
  • NP_000518.1:p.Ser194fs
  • NP_001182727.1:p.Ser194fs
  • NP_001182728.1:p.Ser153fs
  • LRG_274t1:c.581_582insA
  • LRG_274:g.21107_21108insA
  • LRG_274p1:p.Ser194fs
  • NC_000019.9:g.11216163_11216164insA
  • NM_000527.4:c.581_582insA
  • c.581_582insA
Protein change:
S153fs
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000080; dbSNP: rs879254581
NCBI 1000 Genomes Browser:
rs879254581
Molecular consequence:
  • NM_000527.5:c.581_582insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.581_582insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.458_459insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.314-1905_314-1904insA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1078_314-1077insA - intron variant - [Sequence Ontology: SO:0001627]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000294801LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

(ACGS Guidelines, 2013)
Pathogenic
(Mar 25, 2016)
germlineliterature only

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

Citation Link,

SCV000748166Iberoamerican FH Network
criteria provided, single submitter

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

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population.

Arráiz N, Bermúdez V, Rondon N, Reyes F, Borjas L, Solís E, Mujica E, Prieto C, Reyna N, Velasco M.

Am J Ther. 2010 May-Jun;17(3):325-9. doi: 10.1097/MJT.0b013e3181c1234d.

PubMed [citation]
PMID:
20019594

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, SCV000294801.2

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

From Iberoamerican FH Network, SCV000748166.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024