NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
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:: RCV004796128.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)]

NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)

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.1247G>A (p.Arg416Gln)

HGVS:

NC_000019.10:g.11113338G>A
NG_009060.1:g.28958G>A
NM_000527.5:c.1247G>AMANE SELECT
NM_001195798.2:c.1247G>A
NM_001195799.2:c.1124G>A
NM_001195800.2:c.743G>A
NM_001195803.2:c.866G>A
NP_000518.1:p.Arg416Gln
NP_000518.1:p.Arg416Gln
NP_001182727.1:p.Arg416Gln
NP_001182728.1:p.Arg375Gln
NP_001182729.1:p.Arg248Gln
NP_001182732.1:p.Arg289Gln
LRG_274t1:c.1247G>A
LRG_274:g.28958G>A
NC_000019.9:g.11224014G>A
NM_000527.4(LDLR):c.1247G>A
NM_000527.4:c.1247G>A
NM_000527.5:c.1247G>A
P01130:p.Arg416Gln
c.1247G>A

Protein change:

R248Q

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000379; UniProtKB: P01130#VAR_005380; dbSNP: rs773658037

NCBI 1000 Genomes Browser:

rs773658037

Molecular consequence:

NM_000527.5:c.1247G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.1247G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.1124G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195800.2:c.743G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195803.2:c.866G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypercholesterolemia, familial, 4 (FHCL4)
Synonyms:: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1; HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2; Hypercholesterolemia, autosomal recessive
Identifiers:: MONDO: MONDO:0011374; MedGen: C1863512; Orphanet: 391665; OMIM: 603813

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005418145	Juno Genomics, Hangzhou Juno Genomics, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005418145

Juno Genomics, Hangzhou Juno Genomics, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

clinical testing

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Juno Genomics, Hangzhou Juno Genomics, Inc, SCV005418145.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

PS4_Moderate+PP3+PM2+PM5

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

Last Updated: Feb 25, 2025

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