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Variant (rsID / SNP)

rs1057519942

PIK3CA

rs1057519942 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIK3CA. Location: chromosome 3, position 178,921,548. Clinical significance in the table: Pathogenic.

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Reference-table entries

PIK3CAPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:178921548
Cytoband
3q26.32
HGVS
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)
Allele change
Missense_V344M

Associated conditions / phenotypes

Breast neoplasm|Neoplasm of uterine cervix|Glioblastoma|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin|Non-Hodgkin lymphoma|Neoplasm of the large intestine|Malignant neoplasm of body of uterus|Cowden syndrome|Cowden syndrome 5|Hypertelorism|Megalencephaly, autosomal dominant|Intestinal duplication|Diaphragmatic eventration|Abnormality of the hairline

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.