Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000527.5(LDLR):c.2287dup (p.Glu763fs)

CA16602349

375836 (ClinVar)

Gene: LDLR (HGNC:3949)

Condition: hypercholesterolemia, familial (MONDO:0007750)

Inheritance Mode: Semidominant inheritance

UUID: faf42b59-11b0-4332-b9fd-3e72787070ba

Approved on: 2026-01-23

Published on: 2026-02-02

HGVS expressions

NM_000527.5:c.2287dup

NM_000527.5(LDLR):c.2287dup (p.Glu763fs)

NC_000019.10:g.11123320dup

CM000681.2:g.11123320dup

NC_000019.9:g.11233996dup

CM000681.1:g.11233996dup

NC_000019.8:g.11094996dup

NG_009060.1:g.38940dup

ENST00000252444.10:c.2545dup

ENST00000559340.2:c.*356dup

ENST00000560467.2:c.2167dup

ENST00000558518.6:c.2287dup

ENST00000252444.9:c.2541dup

ENST00000455727.6:c.1783dup

ENST00000535915.5:c.2164dup

ENST00000545707.5:c.1753dup

ENST00000557933.5:c.2287dup

ENST00000558013.5:c.2287dup

ENST00000558518.5:c.2287dup

NM_000527.4:c.2287dup

NM_001195798.1:c.2287dup

NM_001195799.1:c.2164dup

NM_001195800.1:c.1783dup

NM_001195803.1:c.1753dup

NM_001195798.2:c.2287dup

NM_001195799.2:c.2164dup

NM_001195800.2:c.1783dup

NM_001195803.2:c.1753dup

Likely Pathogenic

PM2 PVS1

BA1 BS2 BS1

Evidence Links 0

Expert Panel

Familial Hypercholesterolemia VCEP

Criteria Specification Information

Criteria Specification: ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2

PDF

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Familial Hypercholesterolemia VCEP

The NM_000527.5(LDLR):c.2287dup (p.Glu763fs) variant is classified as Likely Pathogenic for Familial Hypercholesterolemia by applying ACMG/AMP evidence codes PVS1 and PM2 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (specification version 1.2) on January 23, 2026. The supporting evidence is as follows: PM2: This variant is absent from gnomAD (gnomAD v4.1.0). PVS1: Variant is nonsense/frameshift causing a premature stop codon amino-terminal of amino acid 830.

PM2

This variant is absent from gnomAD (gnomAD v4.1).

PVS1

Variant is nonsense/frameshift causing a premature stop codon amino-terminal of amino acid 830.

BA1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BS2

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BS1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Curation History

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