NM_002332.3(LRP1):c.300C>T (p.Asp100=) AND Keratosis pilaris

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001195645.1

Allele description [Variation Report for NM_002332.3(LRP1):c.300C>T (p.Asp100=)]

NM_002332.3(LRP1):c.300C>T (p.Asp100=)

Gene:

LRP1:LDL receptor related protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.3

Genomic location:

Preferred name:

NM_002332.3(LRP1):c.300C>T (p.Asp100=)

HGVS:

NC_000012.12:g.57141483C>T
NG_016444.1:g.17985C>T
NM_002332.3:c.300C>TMANE SELECT
NP_002323.2:p.Asp100=
NC_000012.11:g.57535266C>T
NM_002332.2:c.300C>T

Links:

dbSNP: rs1799986

NCBI 1000 Genomes Browser:

rs1799986

Molecular consequence:

NM_002332.3:c.300C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Keratosis pilaris
Synonyms:: Hyperkeratosis pilaris
Identifiers:: MONDO: MONDO:0021036; MedGen: C0263383; Orphanet: 3406; Human Phenotype Ontology: HP:0032152

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001334251	Endocrine Laboratory of Southeast University, Southeast University	no assertion criteria provided	Likely pathogenic (Jan 1, 2019)	unknown	case-control	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001334251

Endocrine Laboratory of Southeast University, Southeast University

no assertion criteria provided

Likely pathogenic
(Jan 1, 2019)

unknown

case-control

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Asian	unknown	yes	20	not provided	not provided	not provided	not provided	case-control

Citations

PubMed

Role of LRP1 in the pathogenesis of Alzheimer's disease: evidence from clinical and preclinical studies.

Shinohara M, Tachibana M, Kanekiyo T, Bu G.

J Lipid Res. 2017 Jul;58(7):1267-1281. doi: 10.1194/jlr.R075796. Epub 2017 Apr 4. Review.

PubMed [citation]

PMID:: 28381441
PMCID:: PMC5496044

Details of each submission

From Endocrine Laboratory of Southeast University, Southeast University, SCV001334251.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asian	20	not provided	not provided	case-control	PubMed (1)

Description

early diagnosis and prevention on AD

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		20	not provided	not provided	not provided

Last Updated: May 19, 2024

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