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NM_000527.5(LDLR):c.1855_1856insA (p.Phe619fs) AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 25, 2016
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:
RCV000238164.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1855_1856insA (p.Phe619fs)]

NM_000527.5(LDLR):c.1855_1856insA (p.Phe619fs)

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.1855_1856insA (p.Phe619fs)
HGVS:
  • NC_000019.10:g.11120101_11120102insA
  • NG_009060.1:g.35721_35722insA
  • NM_000527.5:c.1855_1856insAMANE SELECT
  • NM_001195798.2:c.1855_1856insA
  • NM_001195799.2:c.1732_1733insA
  • NM_001195800.2:c.1351_1352insA
  • NM_001195803.2:c.1474_1475insA
  • NP_000518.1:p.Phe619fs
  • NP_001182727.1:p.Phe619fs
  • NP_001182728.1:p.Phe578fs
  • NP_001182729.1:p.Phe451fs
  • NP_001182732.1:p.Phe492fs
  • LRG_274:g.35721_35722insA
  • NC_000019.9:g.11230777_11230778insA
  • c.1855_1856insA
Protein change:
F451fs
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000916; dbSNP: rs879255053
NCBI 1000 Genomes Browser:
rs879255053
Molecular consequence:
  • NM_000527.5:c.1855_1856insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.1855_1856insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.1732_1733insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.1351_1352insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.1474_1475insA - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000295714LDLR-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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedliterature only

Citations

PubMed

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Zakharova FM, Damgaard D, Mandelshtam MY, Golubkov VI, Nissen PH, Nilsen GG, Stenderup A, Lipovetsky BM, Konstantinov VO, Denisenko AD, Vasilyev VB, Faergeman O.

BMC Med Genet. 2005 Feb 8;6:6.

PubMed [citation]
PMID:
15701167
PMCID:
PMC551615

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295714.2

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

Last Updated: Aug 5, 2023