Variant: NM_000314.6(PTEN):c.-930G>A

CA000640

141717 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

UUID: f654e4d5-1648-4d21-bd61-8ba41ee7bb30

Approved on: 2020-10-20

Published on: 2022-09-30

HGVS expressions

NM_000314.6(PTEN):c.-930G>A
NC_000010.11:g.87863539G>A
CM000672.2:g.87863539G>A
NC_000010.10:g.89623296G>A
CM000672.1:g.89623296G>A
NC_000010.9:g.89613276G>A
NG_007466.2:g.5102G>A
NG_033079.1:g.4899C>T
ENST00000688308.1:c.-17+426G>A
ENST00000693560.1:c.-411G>A
ENST00000371953.7:c.-931G>A
ENST00000610634.1:c.-1033G>A
NM_000314.5:c.-930G>A
NM_000314.6:c.-930G>A
NM_001304717.2:c.-411G>A
NM_001304718.1:c.-1635G>A

Uncertain Significance

• Met criteria codes: PM2

• Not Met criteria codes: PS1 PM5 BA1 BS1

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.-930G>A (NC_000010.10:g.89623296G>A) 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 from gnomAD, ExAC, 1000 Genomes and ESP

Not Met criteria codes

• PS1: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PM5: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• BA1: 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