rs121908755
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)
- Cystic fibrosis (CF)Pathogenic · ★★★ · germline
- ivacaftor response - EfficacyDrug response · ★★★ · germline
- Bronchiectasis with or without elevated sweat chloride 1 (BESC1)Pathogenic · ★ · unknown
- Congenital bilateral aplasia of vas deferens from CFTR mutation (CBAVD)Pathogenic · ★ · germline
- Hereditary pancreatitis (PCTT)Pathogenic · ★ · germline
- Bronchiectasis with or without elevated sweat chloride 1 (BESC1)Pathogenic · ★ · germline
- CFTR-related disorder (CFTR-RD)Pathogenic · ★ · germline
- not providedPathogenic · ★★ · germline
gnomAD allele frequency 6.37e-5
rs121908755 is a genetic variant located in the CFTR gene. dbsnp · gene
In gnomAD, rs121908755 has a very low overall allele fraction of 0.0000636943. gnomad · frequency
In ClinVar, rs121908755 is classified as Pathogenic for Cystic fibrosis (CF) (3 review stars, germline; last evaluated 2017-03-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121908755 is classified as Drug response (efficacy) for ivacaftor response (3 review stars, germline; last evaluated 2021-03-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121908755 is classified as Pathogenic for Bronchiectasis with or without elevated sweat chloride 1 (BESC1) (1 review star; last evaluated 2024-02-27). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs121908755 is classified as Pathogenic for Congenital bilateral aplasia of vas deferens from CFTR mutation (CBAVD) (1 review star, germline; last evaluated 2024-02-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121908755 is classified as Pathogenic for Hereditary pancreatitis (PCTT) (1 review star, germline; last evaluated 2024-02-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121908755 is classified as Pathogenic for Bronchiectasis with or without elevated sweat chloride 1 (BESC1) (1 review star, germline; last evaluated 2024-02-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121908755 is classified as Pathogenic for CFTR-related disorder (CFTR-RD) (1 review star, germline; last evaluated 2023-03-16). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs121908755 is classified as Pathogenic for not provided (2 review stars, germline; last evaluated 2024-09-25). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 200b37bd7a0bf540 · 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.