NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
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:: RCV001699173.3

Allele description [Variation Report for NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly)]

NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly)

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.1475A>G (p.Asp492Gly)

Other names:

NM_000527.5(LDLR):c.1475A>G; p.Asp492Gly

HGVS:

NC_000019.10:g.11113651A>G
NG_009060.1:g.29271A>G
NM_000527.5:c.1475A>GMANE SELECT
NM_001195798.2:c.1475A>G
NM_001195799.2:c.1352A>G
NM_001195800.2:c.971A>G
NM_001195803.2:c.1094A>G
NP_000518.1:p.Asp492Gly
NP_000518.1:p.Asp492Gly
NP_001182727.1:p.Asp492Gly
NP_001182728.1:p.Asp451Gly
NP_001182729.1:p.Asp324Gly
NP_001182732.1:p.Asp365Gly
LRG_274t1:c.1475A>G
LRG_274:g.29271A>G
LRG_274p1:p.Asp492Gly
NC_000019.9:g.11224327A>G
NM_000527.4:c.1475A>G
c.1475A>G

Protein change:

D324G

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001056; dbSNP: rs879254918

NCBI 1000 Genomes Browser:

rs879254918

Molecular consequence:

NM_000527.5:c.1475A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.1475A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001195800.2:c.971A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001195803.2:c.1094A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001925057	Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely pathogenic	germline	clinical testing
SCV001962980	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001925057

Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Likely pathogenic

germline

clinical testing

SCV001962980

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus

no assertion criteria provided

Pathogenic

germline

clinical testing

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

Details of each submission

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001925057.1

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

#	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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001962980.1

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

#	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: Oct 26, 2024

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