Variant: NM_000314.4(PTEN):c.-943C>T

CA000644

127682 (ClinVar)

Gene: N/A

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

UUID: 20219327-c1e4-4b5a-aa2a-6fa6fcca927d

HGVS expressions

NM_000314.4(PTEN):c.-943C>T
NC_000010.11:g.87863526C>T
CM000672.2:g.87863526C>T
NC_000010.10:g.89623283C>T
CM000672.1:g.89623283C>T
NC_000010.9:g.89613263C>T
NG_007466.2:g.5089C>T
NG_033079.1:g.4912G>A
ENST00000688308.1:c.-17+413C>T
ENST00000693560.1:c.-424C>T
ENST00000445946.5:c.-1039G>A
ENST00000371953.7:c.-944C>T
ENST00000610634.1:c.-1046C>T
NM_000314.5:c.-943C>T
NM_000314.6:c.-943C>T
NM_001304717.2:c.-424C>T
NM_001304718.1:c.-1648C>T
NM_001126049.2:c.-1039G>A
NM_001126049.2(KLLN):c.-1039G>A

Uncertain Significance

The Expert Panel has overridden the computationally generated classification - "[unknown]"

• Not 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.-943C>T (NC_000010.10:g.89623283C>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). No criteria currently apply to this variant.

Not Met criteria codes

• PM2: 5 alleles gnomAD V3

Approved on: 2020-10-20

Published on: 2022-09-30