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.817+9T>C

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA029634

431514 (ClinVar)

Gene: LDLR

Condition: hypercholesterolemia, familial

Inheritance Mode: Semidominant inheritance

Link to MONDO

UUID: 53cf9ef3-d19f-4c7b-acca-b565b6bc775f

Approved on: 2025-02-20

Published on: 2025-06-17

HGVS expressions

NM_000527.5:c.817+9T>C

NM_000527.5(LDLR):c.817+9T>C

NC_000019.10:g.11106696T>C

CM000681.2:g.11106696T>C

NC_000019.9:g.11217372T>C

CM000681.1:g.11217372T>C

NC_000019.8:g.11078372T>C

NG_009060.1:g.22316T>C

ENST00000252444.10:c.1075+9T>C

ENST00000559340.2:c.817+9T>C

ENST00000560467.2:c.817+9T>C

ENST00000558518.6:c.817+9T>C

ENST00000252444.9:c.1071+9T>C

ENST00000455727.6:c.314-696T>C

ENST00000535915.5:c.694+9T>C

ENST00000545707.5:c.436+9T>C

ENST00000557933.5:c.817+9T>C

ENST00000558013.5:c.817+9T>C

ENST00000558518.5:c.817+9T>C

ENST00000558528.1:n.332+9T>C

ENST00000560467.1:c.417+9T>C

NM_000527.4:c.817+9T>C

NM_001195798.1:c.817+9T>C

NM_001195799.1:c.694+9T>C

NM_001195800.1:c.314-696T>C

NM_001195803.1:c.436+9T>C

NM_001195798.2:c.817+9T>C

NM_001195799.2:c.694+9T>C

NM_001195800.2:c.314-696T>C

NM_001195803.2:c.436+9T>C

Likely Benign

BP4 BS1

PS4 PP4

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.817+9T>C variant is classified as Likely Benign for Familial Hypercholesterolemia by applying ACMG/AMP evidence codes BS1 and BP4 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (specification version 1.2) on 20 February 2025. The supporting evidence is as follows: BS1: PopMax FAF=0.2689% in population exomes/genomes (gnomAD v4.1.0). BP4: Not in splicing limits, so BP4 is met.

BP4

Not in splicing limits, so BP4 is met.

BS1

PopMax FAF=0.2689% in population exomes/genomes (gnomAD v4.1.0).

PS4

Variant does not meet PM2.

PP4

Variant does not meet PM2.

Curation History

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