Variant: NM_000314.7(PTEN):c.80-5C>T

CA16612999

412802 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

UUID: 31e308aa-205e-4b0a-9e68-7245feb93f64

Approved on: 2020-10-20

Published on: 2022-09-30

HGVS expressions

NM_000314.7:c.80-5C>T
NM_000314.7(PTEN):c.80-5C>T
NC_000010.11:g.87894020C>T
CM000672.2:g.87894020C>T
NC_000010.10:g.89653777C>T
CM000672.1:g.89653777C>T
NC_000010.9:g.89643757C>T
NG_007466.2:g.35582C>T
ENST00000686459.1:c.80-5C>T
ENST00000688158.1:c.*275+13582C>T
ENST00000688308.1:c.80-5C>T
ENST00000693560.1:c.599-5C>T
ENST00000371953.8:c.80-5C>T
ENST00000371953.7:c.80-5C>T
ENST00000462694.1:n.82-5C>T
ENST00000610634.1:c.-23-5C>T
NM_000314.5:c.80-5C>T
NM_000314.6:c.80-5C>T
NM_001304717.2:c.599-5C>T
NM_001304718.1:c.-626-5C>T
NM_001304717.5:c.599-5C>T
NM_001304718.2:c.-626-5C>T
NM_000314.8:c.80-5C>T
NM_000314.8(PTEN):c.80-5C>T

Uncertain Significance

• Met criteria codes: PM2

Expert Panel

PTEN VCEP

Criteria Specification Information

Criteria Specification: ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2

Evidence submitted by expert panel

PTEN VCEP

PTEN c.80-5C>T (IVS1-5C>T) is currently classified as a variant of uncertain significance for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). Please see a summary of the rules and criteria codes in the “PTEN ACMG Specifications Summary” document (assertion method column). PM2: Absent in large sequenced populations

Met criteria codes

• PM2: Absent in gnomAD