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.*13A>G

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA032236

265909 (ClinVar)

Gene: LDLR

Condition: hypercholesterolemia, familial

Inheritance Mode: Semidominant inheritance

Link to MONDO

UUID: ae223342-a204-4cd9-aa08-f14be46a3820

Approved on: 2024-10-28

Published on: 2025-01-19

HGVS expressions

NM_000527.5:c.*13A>G

NM_000527.5(LDLR):c.*13A>G

NC_000019.10:g.11131329A>G

CM000681.2:g.11131329A>G

NC_000019.9:g.11242005A>G

CM000681.1:g.11242005A>G

NC_000019.8:g.11103005A>G

NG_009060.1:g.46949A>G

ENST00000252444.10:c.*13A>G

ENST00000559340.2:c.*665A>G

ENST00000560467.2:c.*13A>G

ENST00000558518.6:c.*13A>G

ENST00000252444.9:c.2850A>G

ENST00000455727.6:c.*13A>G

ENST00000535915.5:c.*13A>G

ENST00000545707.5:c.*13A>G

ENST00000557933.5:c.2658A>G

ENST00000558013.5:c.*13A>G

ENST00000558518.5:c.*13A>G

ENST00000560628.1:n.109-1766A>G

NM_000527.4:c.*13A>G

NM_001195798.1:c.*13A>G

NM_001195799.1:c.*13A>G

NM_001195800.1:c.*13A>G

NM_001195803.1:c.*13A>G

NM_001195798.2:c.*13A>G

NM_001195799.2:c.*13A>G

NM_001195800.2:c.*13A>G

NM_001195803.2:c.*13A>G

Benign

BA1

BP4 BS1 BS2 PP4 PP3 PS4 PM2

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.*13A>G variant is classified as Benign for Familial Hypercholesterolemia by applying ACMG/AMP evidence code BA1 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (specification version 1.2) on 28 October 2024. The supporting evidence is as follows: BA1: FAF = 0.007871(0.7871%) in African/African American exomes (gnomAD v4.1.0).

BA1

FAF = 0.007871(0.7871%) in African/African American exomes (gnomAD v4.101).

BP4

Variant is not a Missense variant

BS1

FAF = 0.007871(0.7871%) in African/African American exomes (gnomAD v4.101).

BS2

Variant not identified in any normolipidemic individuals

PP4

Variant does not meet PM2

PP3

Variant is not a Missense variant

PS4

Variant does not meet PM2

PM2

PopMax MAF = 0.008567 (0.8567%) in African/African American exomes+genomes (gnomAD v4.1.0).

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.