Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • See Evidence submitted by expert panel for details.

Variant: NM_000314.6(PTEN):c.737C>T (p.Pro246Leu)

CA000559

142269 (ClinVar)

Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 835a14e6-4a41-47df-a1ff-271c872adf39
Approved on: 2017-10-18
Published on: 2018-12-10

HGVS expressions

NM_000314.6:c.737C>T
NM_000314.6(PTEN):c.737C>T (p.Pro246Leu)
NM_000314.5:c.737C>T
NM_001304717.2:c.1256C>T
NM_001304718.1:c.146C>T
NM_000314.7:c.737C>T
NM_001304717.5:c.1256C>T
NM_001304718.2:c.146C>T
ENST00000371953.7:c.737C>T
ENST00000472832.2:n.164C>T
NC_000010.11:g.87957955C>T
CM000672.2:g.87957955C>T
NC_000010.10:g.89717712C>T
CM000672.1:g.89717712C>T
NC_000010.9:g.89707692C>T
NG_007466.2:g.99517C>T
More

Pathogenic

Met criteria codes 4
PS4 PS2_Very Strong PM2 PP2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
PTEN VCEP
PTEN c.737C>T (p.P246L) meets criteria to be classified as pathogenic for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (Mester et al. 2018; manuscript in preparation). Please see a summary of the rules and criteria codes in the “PTEN ACMG Specifications Summary” document (assertion method column). PS2_VS: At least two proven OR one proven plus two assumed de novo observations in a patient with the disease and no family history. (PMID 23934111, internal laboratory contributor(s) SCV000222227.10) PS4: Probands with phenotype specificity score of 4-15.5. (PMID 24375884, PMID 10076877, PMID 22261759, PMID 23934111, internal laboratory contributor(s) SCV000222227.10) PM2: Absent in large sequenced populations. (PMID 27535533). PP2: PTEN is defined by the PTEN Expert Panel as a gene that has a low rate of benign missense variation and where missense variants are a common mechanism of disease.
Met criteria codes
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2_Very Strong
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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