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.4G>A (p.Gly2Arg)

CA10584722

250970 (ClinVar)

Gene: LDLR

Condition: hypercholesterolemia, familial

Inheritance Mode: Semidominant inheritance

Link to MONDO

UUID: 0ddd220f-6fa7-470e-a89c-bc65694949a5

HGVS expressions

NM_000527.5:c.4G>A

NM_000527.5(LDLR):c.4G>A (p.Gly2Arg)

NC_000019.10:g.11089552G>A

CM000681.2:g.11089552G>A

NC_000019.9:g.11200228G>A

CM000681.1:g.11200228G>A

NC_000019.8:g.11061228G>A

NG_009060.1:g.5172G>A

ENST00000558518.6:c.4G>A

ENST00000455727.6:c.4G>A

ENST00000535915.5:c.4G>A

ENST00000545707.5:c.4G>A

ENST00000557933.5:c.4G>A

ENST00000557958.1:n.90G>A

ENST00000558013.5:c.4G>A

ENST00000558518.5:c.4G>A

ENST00000560502.5:n.90G>A

NM_000527.4:c.4G>A

NM_001195798.1:c.4G>A

NM_001195799.1:c.4G>A

NM_001195800.1:c.4G>A

NM_001195803.1:c.4G>A

NM_001195798.2:c.4G>A

NM_001195799.2:c.4G>A

NM_001195800.2:c.4G>A

NM_001195803.2:c.4G>A

NR_163945.1:n.108C>T

Uncertain Significance

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

NM_000527.5(LDLR):c.4G>A (p.Gly2Arg) variant is classified as uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence code PM2 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 - Variant is absent from gnomAD (gnomAD v2.1.1).

PM2

Variant is absent from gnomAD (gnomAD v2.1.1).

Approved on: 2022-03-08

Published on: 2022-04-30

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