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]

Link to SEPIO compliant JSON-LD document

Variant: NM_000527.5(LDLR):c.240C>A (p.Asn80Lys)

CA10584802

251087 (ClinVar)

Gene: LDLR

Condition: hypercholesterolemia, familial

Inheritance Mode: Semidominant inheritance

Link to MONDO

UUID: 95b3712b-91f7-444b-b001-5f4e2c6bf35e

HGVS expressions

NM_000527.5:c.240C>A

NM_000527.5(LDLR):c.240C>A (p.Asn80Lys)

NC_000019.10:g.11102713C>A

CM000681.2:g.11102713C>A

NC_000019.9:g.11213389C>A

CM000681.1:g.11213389C>A

NC_000019.8:g.11074389C>A

NG_009060.1:g.18333C>A

ENST00000558518.6:c.240C>A

ENST00000252444.9:n.494C>A

ENST00000455727.6:c.240C>A

ENST00000535915.5:c.190+2368C>A

ENST00000545707.5:c.240C>A

ENST00000557933.5:c.240C>A

ENST00000557958.1:n.326C>A

ENST00000558013.5:c.240C>A

ENST00000558518.5:c.240C>A

NM_000527.4:c.240C>A

NM_001195798.1:c.240C>A

NM_001195799.1:c.190+2368C>A

NM_001195800.1:c.240C>A

NM_001195803.1:c.240C>A

NM_001195798.2:c.240C>A

NM_001195799.2:c.190+2368C>A

NM_001195800.2:c.240C>A

NM_001195803.2:c.240C>A

Uncertain Significance

BP4 PM2

Evidence Links 0

Expert Panel

Familial Hypercholesterolemia VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Familial Hypercholesterolemia VCEP

The NM_000527.5(LDLR):c.240C>A (p.Asn80Lys)variant is classified as Uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence code PM2, BP4 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (https://doi.org/10.1016/j.gim.2021.09.012). The supporting evidence is as follows: PM2 - This variant is absent from gnomAD (gnomAD v2.1.1) BP4 - REVEL = 0.389. It is below 0.50. splicing evaluation required. Functional data not available A) not on limits B) does not create AG or GT Variant is not predicted to alter splicing

BP4

BP4 - REVEL = 0.389. It is below 0.50. splicing evaluation required. Functional data not available A) not on limits B) does not create AG or GT Variant is not predicted to alter splicing

PM2

PM2 - This variant is absent from gnomAD (gnomAD v2.1.1)

Approved on: 2022-08-29

Published on: 2022-12-23

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