U.S. flag

An official website of the United States government

NM_000527.5(LDLR):c.790A>G (p.Met264Val) AND Hypercholesterolemia, familial, 1

Germline classification:
Likely benign (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:
RCV000237704.1

Allele description [Variation Report for NM_000527.5(LDLR):c.790A>G (p.Met264Val)]

NM_000527.5(LDLR):c.790A>G (p.Met264Val)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.790A>G (p.Met264Val)
HGVS:
  • NC_000019.10:g.11106660A>G
  • NG_009060.1:g.22280A>G
  • NM_000527.5:c.790A>GMANE SELECT
  • NM_001195798.2:c.790A>G
  • NM_001195799.2:c.667A>G
  • NM_001195800.2:c.314-732A>G
  • NM_001195803.2:c.409A>G
  • NP_000518.1:p.Met264Val
  • NP_001182727.1:p.Met264Val
  • NP_001182728.1:p.Met223Val
  • NP_001182732.1:p.Met137Val
  • LRG_274:g.22280A>G
  • NC_000019.9:g.11217336A>G
  • c.790A>G
Protein change:
M137V
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001840; dbSNP: rs730882088
NCBI 1000 Genomes Browser:
rs730882088
Molecular consequence:
  • NM_001195800.2:c.314-732A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.667A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.409A>G - missense variant - [Sequence Ontology: SO:0001583]

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

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000294972LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

(ACGS Guidelines, 2013)
Likely benign
(Mar 25, 2016)
germlineresearch

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineno1not providednot provided1not providedresearch

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294972.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineno1not providednot provided1not providednot providednot provided

Last Updated: Aug 5, 2023