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.132C>T (p.Gly44=)

CA000318

92813 (ClinVar)

Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 4fa0530f-2999-441d-b303-9451e343e97b
Approved on: 2016-11-09
Published on: 2018-12-10

HGVS expressions

NM_000314.6:c.132C>T
NM_000314.6(PTEN):c.132C>T (p.Gly44=)
NM_000314.5:c.132C>T
NM_001304717.2:c.651C>T
NM_001304718.1:c.-574C>T
NM_000314.7:c.132C>T
NM_001304717.5:c.651C>T
NM_001304718.2:c.-574C>T
ENST00000371953.7:c.132C>T
ENST00000462694.1:n.134C>T
ENST00000610634.1:c.30C>T
NC_000010.11:g.87894077C>T
CM000672.2:g.87894077C>T
NC_000010.10:g.89653834C>T
CM000672.1:g.89653834C>T
NC_000010.9:g.89643814C>T
NG_007466.2:g.35639C>T
More

Likely Benign

Met criteria codes 4
BP5 BP7 BS1 BS2_Supporting

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
PTEN VCEP
PTEN c.132C>T (p.G44=) meets criteria to be classified as likely benign 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). BS1: Allele frequency of 0.167 (1.67%, 463/276,792 alleles) in the gnomAD cohort. (PMID 27535533) BS2_P: Meets criteria for BS2 (observed in the homozygous state in at least one healthy or PHTS-unaffected individual) but BS1 is also applied. (Internal laboratory contributor(s) SCV000212700.3) BP5: Variant found in multiple cases with alternate molecular basis for disease. (Internal laboratory contributor(s) SCV000212700.3) BP7: Variant is synonymous (silent), nucleotide is not conserved, and no splicing impact is predicted.
Met criteria codes
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2_Supporting
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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