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]
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  • See Evidence submitted by expert panel for details.

Variant: NM_000314.6(PTEN):c.511C>T (p.Gln171Ter)

CA000494

189411 (ClinVar)

Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 276b536d-e9cf-488e-a7bf-d2d8d0b119b6
Approved on: 2017-10-18
Published on: 2018-12-10

HGVS expressions

NM_000314.6:c.511C>T
NM_000314.6(PTEN):c.511C>T (p.Gln171Ter)
NM_000314.5:c.511C>T
NM_001304717.2:c.1030C>T
NM_001304718.1:c.-81C>T
NM_000314.7:c.511C>T
NM_001304717.5:c.1030C>T
NM_001304718.2:c.-81C>T
ENST00000371953.7:c.511C>T
NC_000010.11:g.87952136C>T
CM000672.2:g.87952136C>T
NC_000010.10:g.89711893C>T
CM000672.1:g.89711893C>T
NC_000010.9:g.89701873C>T
NG_007466.2:g.93698C>T

Pathogenic

Met criteria codes 4
PM2 PM6 PVS1 PS4_Moderate

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
PTEN VCEP
PTEN c.511C>T (p.Q171X) 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). PVS1: Null variant predicted to result in nonsense-mediated decay or causing truncation/frameshift at or 5’ to c.1121 (NM_000314.4). PM2: Absent in large sequenced populations (PMID 27535533). PM6: Assumed de novo, but without confirmation of paternity and maternity in a patient with the disease and no family history. (PMID 22595938) PS4_M: Probands with phenotype specificity score of 2-3.5. (PMID 17043057, PMID 22595938)
Met criteria codes
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4_Moderate
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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