U.S. flag

An official website of the United States government

NM_000527.5(LDLR):c.946_994del (p.Asn316fs) 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:
RCV000237976.1

Allele description [Variation Report for NM_000527.5(LDLR):c.946_994del (p.Asn316fs)]

NM_000527.5(LDLR):c.946_994del (p.Asn316fs)

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.946_994del (p.Asn316fs)
HGVS:
  • NC_000019.10:g.11110657_11110705del
  • NG_009060.1:g.26277_26325del
  • NM_000527.5:c.946_994delMANE SELECT
  • NM_001195798.2:c.946_994del
  • NM_001195799.2:c.823_871del
  • NM_001195800.2:c.442_490del
  • NM_001195803.2:c.565_613del
  • NP_000518.1:p.Asn316fs
  • NP_001182727.1:p.Asn316fs
  • NP_001182728.1:p.Asn275fs
  • NP_001182729.1:p.Asn148fs
  • NP_001182732.1:p.Asn189fs
  • LRG_274:g.26277_26325del
  • NC_000019.9:g.11221333_11221381del
  • c.946_994del
Protein change:
N148fs
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000995; dbSNP: rs879254736
NCBI 1000 Genomes Browser:
rs879254736
Molecular consequence:
  • NM_000527.5:c.946_994del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.946_994del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.823_871del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.442_490del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.565_613del - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000295103LDLR-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

Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan.

Hattori H, Hirayama T, Nobe Y, Nagano M, Kujiraoka T, Egashira T, Ishii J, Tsuji M, Emi M.

J Hum Genet. 2002;47(2):80-7.

PubMed [citation]
PMID:
11916007

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295103.2

#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