NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 7, 2020
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:: RCV001008217.2

Allele description [Variation Report for NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs)]

NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs)

Gene:

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs)

HGVS:

NC_000019.10:g.11102722delinsGG
NG_009060.1:g.18342delinsGG
NM_000527.5:c.249delinsGGMANE SELECT
NM_001195798.2:c.249delinsGG
NM_001195799.2:c.190+2377delinsGG
NM_001195800.2:c.249delinsGG
NM_001195803.2:c.249delinsGG
NP_000518.1:p.Ile83fs
NP_000518.1:p.Ile83fs
NP_001182727.1:p.Ile83fs
NP_001182729.1:p.Ile83fs
NP_001182732.1:p.Ile83fs
LRG_274t1:c.249delinsGG
LRG_274:g.18342delinsGG
LRG_274p1:p.Ile83fs
NC_000019.9:g.11213398delinsGG
NM_000527.4:c.249delTinsGG
NM_000527.4:c.249delinsGG

Protein change:

I83fs

Links:

dbSNP: rs1600704961

NCBI 1000 Genomes Browser:

rs1600704961

Molecular consequence:

NM_000527.5:c.249delinsGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.249delinsGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.249delinsGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195803.2:c.249delinsGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.190+2377delinsGG - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001167983	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 7, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001167983

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Apr 7, 2020)

germline

clinical testing

Citation Link

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 GeneDx, SCV001167983.2

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

Description

Not observed in large population cohorts (Lek et al., 2016); Reported as pathogenic in ClinVar but additional evidence is not available (ClinVar Variant ID#660717; Landrum et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 32104752)

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine