NM_000384.3(APOB):c.2630C>T (p.Pro877Leu) AND Familial hypercholesterolemia 1

Clinical significance:Likely benign (Last evaluated: Jan 2, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000582805.2

Allele description [Variation Report for NM_000384.3(APOB):c.2630C>T (p.Pro877Leu)]

NM_000384.3(APOB):c.2630C>T (p.Pro877Leu)

Gene:
APOB:apolipoprotein B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p24.1
Genomic location:
Preferred name:
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu)
HGVS:
  • NC_000002.12:g.21023017G>A
  • NG_011793.1:g.26057C>T
  • NM_000384.3:c.2630C>TMANE SELECT
  • NP_000375.3:p.Pro877Leu
  • NC_000002.11:g.21245889G>A
  • NM_000384.2:c.2630C>T
Protein change:
P877L
Links:
dbSNP: rs12714097
NCBI 1000 Genomes Browser:
rs12714097
Molecular consequence:
  • NM_000384.3:c.2630C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypercholesterolemia 1 (FHCL1)
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
SCV000782831Robarts Research Institute,Western Universitycriteria provided, single submitter
Likely benign
(Jan 2, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Robarts Research Institute,Western University, SCV000782831.1

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

Last Updated: Oct 8, 2021

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