← Genclarus

rs104886003

NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)

PIK3CAmissense variantp.Glu545Lyssingle nucleotide variant
ClinVar by condition
  • PIK3CA related overgrowth syndromePathogenic · ★★ · germline
  • CLOVES syndromeLikely pathogenic · ★★ · somatic
  • Eccrine angiomatous hamartomaPathogenic · ★ · somatic
  • Segmental undergrowth associated with lymphatic malformationPathogenic · ★ · somatic
  • PIK3CA overgrowth syndromePathogenic · ★ · somatic
  • Cerebrofacial Vascular Metameric Syndrome (CVMS)Pathogenic · somatic
  • Gallbladder cancerPathogenic · somatic
  • Breast adenocarcinomaPathogenic · somatic
  • OVARIAN CANCER, EPITHELIAL, SOMATICPathogenic · somatic
  • Carcinoma of colon (CRC)Pathogenic · somatic
  • Seborrheic keratosisPathogenic · somatic
  • Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)Pathogenic · somatic

rs104886003 is a genetic variant located in the PIK3CA gene. dbsnp · gene

In ClinVar, rs104886003 is classified as Pathogenic for PIK3CA related overgrowth syndrome (2 review stars, germline; last evaluated 2023-11-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Likely pathogenic for CLOVES syndrome (2 review stars, somatic; last evaluated 2019-01-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Pathogenic for Eccrine angiomatous hamartoma (1 review star, somatic; last evaluated 2021-10-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Pathogenic for Segmental undergrowth associated with lymphatic malformation (1 review star, somatic; last evaluated 2021-04-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Pathogenic for PIK3CA overgrowth syndrome (1 review star, somatic; last evaluated 2020-12-09). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Pathogenic for Cerebrofacial Vascular Metameric Syndrome (CVMS) (0 review stars, somatic; last evaluated 2021-09-30). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Pathogenic for Gallbladder cancer (0 review stars, somatic; last evaluated 2020-10-30). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Pathogenic for Breast adenocarcinoma (0 review stars, somatic; last evaluated 2012-06-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Pathogenic for OVARIAN CANCER, EPITHELIAL, SOMATIC (0 review stars, somatic; last evaluated 2012-06-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Pathogenic for Carcinoma of colon (CRC) (0 review stars, somatic; last evaluated 2012-06-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Pathogenic for Seborrheic keratosis (0 review stars, somatic; last evaluated 2012-06-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Pathogenic for Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) (0 review stars, somatic; last evaluated 2012-06-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Pathogenic for Non-small cell lung carcinoma (NSCLC) (0 review stars, somatic; last evaluated 2012-06-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Pathogenic for Gastric cancer (0 review stars, somatic; last evaluated 2012-06-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Pathogenic for HEMIFACIAL MYOHYPERPLASIA, SOMATIC (0 review stars, somatic; last evaluated 2012-06-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Pathogenic for Abnormal cardiovascular system morphology (0 review stars, somatic). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs104886003 is classified as Likely pathogenic for Angioosteohypertrophic syndrome (KTS) (0 review stars, somatic; last evaluated 2024-03-19). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Likely pathogenic for Rare venous malformation (0 review stars, somatic; last evaluated 2024-03-19). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Likely pathogenic for Rare combined vascular malformation (0 review stars, somatic; last evaluated 2024-03-19). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as Likely pathogenic for Ovarian neoplasm (0 review stars, somatic; last evaluated 2018-12-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs104886003 is classified as not provided for Sarcoma (0 review stars, somatic). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs104886003 is classified as Pathogenic for not provided (2 review stars, germline; last evaluated 2024-01-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

Sources

retrieved 2026-08-03 · facts 638f3df268853c45 · 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.