rs11591147
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
- Hypercholesterolemia, autosomal dominant, 3 (FHCL3)Likely benign · ★★ · germline
- Familial hypercholesterolemiaBenign · ★★ · germline
- Hypercholesterolemia, familial, 1Benign · ★★ · germline
- HypobetalipoproteinemiaBenign · ★ · germline
- Cardiovascular phenotypeBenign · ★ · germline
- HypocholesterolemiaPathogenic · germline
- Low density lipoprotein cholesterol level quantitative trait locus 1 (LDLCQ1)association · germline
- not providedLikely benign · ★★ · germline
- not specifiedBenign · ★ · germline
gnomAD allele frequency 1.40e-2
rs11591147 is a genetic variant located in the PCSK9 gene. dbsnp · gene
In gnomAD, rs11591147 has an overall allele frequency of 1.4%. gnomad · frequency
In ClinVar, rs11591147 is classified as Likely benign for Hypercholesterolemia, autosomal dominant, 3 (FHCL3) (2 review stars, germline; last evaluated 2025-02-02). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs11591147 is classified as Benign for Familial hypercholesterolemia (2 review stars, germline; last evaluated 2022-07-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs11591147 is classified as Benign for Hypercholesterolemia, familial, 1 (2 review stars, germline; last evaluated 2019-08-22). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs11591147 is classified as Benign for Hypobetalipoproteinemia (1 review star, germline; last evaluated 2018-03-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs11591147 is classified as Benign for Cardiovascular phenotype (1 review star, germline; last evaluated 2017-03-16). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs11591147 is classified as Pathogenic for Hypocholesterolemia (0 review stars, germline). clinvar · classificationclinvar · review confidenceclinvar · origin
In ClinVar, rs11591147 is classified as association for Low density lipoprotein cholesterol level quantitative trait locus 1 (LDLCQ1) (0 review stars, germline; last evaluated 2008-03-20). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs11591147 is classified as Likely benign for not provided (2 review stars, germline; last evaluated 2024-11-22). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs11591147 is classified as Benign for not specified (1 review star, germline; last evaluated 2017-05-08). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts f7d724765e99ad3f · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0
Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.