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>C (p.Gly2Arg)

CA085719

250971 (ClinVar)

Gene: LDLR

Condition: hypercholesterolemia, familial

Inheritance Mode: Semidominant inheritance

Link to MONDO

UUID: 610086db-97cc-4269-9e2d-65da8253257c

HGVS expressions

NM_000527.5:c.4G>C

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

NC_000019.10:g.11089552G>C

CM000681.2:g.11089552G>C

NC_000019.9:g.11200228G>C

CM000681.1:g.11200228G>C

NC_000019.8:g.11061228G>C

NG_009060.1:g.5172G>C

ENST00000558518.6:c.4G>C

ENST00000455727.6:c.4G>C

ENST00000535915.5:c.4G>C

ENST00000545707.5:c.4G>C

ENST00000557933.5:c.4G>C

ENST00000557958.1:n.90G>C

ENST00000558013.5:c.4G>C

ENST00000558518.5:c.4G>C

ENST00000560502.5:n.90G>C

NM_000527.4:c.4G>C

NM_001195798.1:c.4G>C

NM_001195799.1:c.4G>C

NM_001195800.1:c.4G>C

NM_001195803.1:c.4G>C

NM_001195798.2:c.4G>C

NM_001195799.2:c.4G>C

NM_001195800.2:c.4G>C

NM_001195803.2:c.4G>C

NR_163945.1:n.108C>G

Uncertain Significance

PP4 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>C (p.Gly2Arg)variant is classified as uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence code PM2 and PP4 as defined by the ClinGen Familial NM_000527.5(LDLR):c.4G>C (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 - PopMax MAF = 0.00016 (0.016%) in African exomes (gnomAD v2.1.1). PP4 - Variant meets PM2 and is identified in one index cases who fulfills SB criteria for FH (1 case from CGMC, UFGOD (APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière)).

PP4

PM2 is met and is identified in one index cases who fulfil SB criteria for FH (Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies (APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière))

PM2

PopMax MAF = 0.0001629 (0.016%) in African/African American exomes (gnomAD v2.1.1)

Approved on: 2022-04-29

Published on: 2022-12-24

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.