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Variant (rsID / SNP)

rs121909219

PTEN

rs121909219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,717,672. Clinical significance in the table: Pathogenic.

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Reference-table entries

PTENPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:89717672
Cytoband
10q23.31
HGVS
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
Allele change
Nonsense_R406X

Associated conditions / phenotypes

Cowden syndrome 1|PTEN hamartoma tumor syndrome|Hereditary cancer-predisposing syndrome|Breast neoplasm|Neoplasm of the large intestine|Glioblastoma|Non-small cell lung carcinoma|Macrocephaly-autism syndrome|Cowden syndrome|Neoplasm of ovary|Abnormality of cardiovascular system morphology

Public references

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