rs121918472
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
- Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)Conflicting interpretations · ★ · germline
- Optic atrophyUncertain significance · ★ · germline
- Retinal dystrophyUncertain significance · ★ · germline
- Thrombophilia due to protein S deficiency, autosomal recessive (THPH6)Uncertain significance · ★ · germline
- Hereditary thrombophilia due to congenital protein S deficiencyUncertain significance · ★ · germline
- Protein S HeerlenPathogenic · germline
- not providedConflicting interpretations · ★ · germline
- not specifiedConflicting interpretations · ★ · germline
gnomAD allele frequency 1.94e-3
rs121918472 is a genetic variant located in the PROS1 gene. dbsnp · gene
In gnomAD, rs121918472 has an overall allele frequency of 0.19%. gnomad · frequency
In ClinVar, rs121918472 is classified as Conflicting interpretations for Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) (1 review star, germline; last evaluated 2018-11-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121918472 is classified as Uncertain significance for Optic atrophy (1 review star, germline; last evaluated 2023-01-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121918472 is classified as Uncertain significance for Retinal dystrophy (1 review star, germline; last evaluated 2023-01-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121918472 is classified as Uncertain significance for Thrombophilia due to protein S deficiency, autosomal recessive (THPH6) (1 review star, germline; last evaluated 2022-10-27). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121918472 is classified as Uncertain significance for Hereditary thrombophilia due to congenital protein S deficiency (1 review star, germline; last evaluated 2021-09-15). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121918472 is classified as Pathogenic for Protein S Heerlen (0 review stars, germline; last evaluated 2004-06-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121918472 is classified as Conflicting interpretations for not provided (1 review star, germline; last evaluated 2024-09-18). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121918472 is classified as Conflicting interpretations for not specified (1 review star, germline; last evaluated 2019-02-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts c97b1926db759a8c · 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.