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NM_000527.5(LDLR):c.2022dup (p.Gly675fs) AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 10, 2021
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:
RCV001813913.1

Allele description [Variation Report for NM_000527.5(LDLR):c.2022dup (p.Gly675fs)]

NM_000527.5(LDLR):c.2022dup (p.Gly675fs)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.2022dup (p.Gly675fs)
Other names:
p.Gly675TrpfsTer42
HGVS:
  • NC_000019.10:g.11120404dup
  • NG_009060.1:g.36024dup
  • NM_000527.5:c.2022dupMANE SELECT
  • NM_001195798.2:c.2022dup
  • NM_001195799.2:c.1899dup
  • NM_001195800.2:c.1518dup
  • NM_001195803.2:c.1606+171dup
  • NP_000518.1:p.Gly675fs
  • NP_001182727.1:p.Gly675fs
  • NP_001182728.1:p.Gly634fs
  • NP_001182729.1:p.Gly507fs
  • LRG_274t1:c.2022dup
  • LRG_274:g.36024dup
  • NC_000019.9:g.11231080dup
  • NM_000527.4:c.2022dupT
Protein change:
G507fs
Links:
dbSNP: rs2147265977
NCBI 1000 Genomes Browser:
rs2147265977
Molecular consequence:
  • NM_000527.5:c.2022dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.2022dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.1899dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.1518dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.1606+171dup - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002061313Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 10, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

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

Details of each submission

From Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics, SCV002061313.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023