Variant: NM_000314.7(PTEN):c.1105G>A (p.Val369Ile)

CA000295

142088 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

UUID: aa730450-8f23-4731-99be-572edc912052

Approved on: 2020-03-23

Published on: 2020-03-25

HGVS expressions

NM_000314.7:c.1105G>A
NM_000314.7(PTEN):c.1105G>A (p.Val369Ile)
NC_000010.11:g.87965365G>A
CM000672.2:g.87965365G>A
NC_000010.10:g.89725122G>A
CM000672.1:g.89725122G>A
NC_000010.9:g.89715102G>A
NG_007466.2:g.106927G>A
NM_000314.5:c.1105G>A
NM_000314.6:c.1105G>A
NM_001304717.2:c.1624G>A
NM_001304718.1:c.514G>A
NM_001304717.5:c.1624G>A
NM_001304718.2:c.514G>A
NM_000314.8:c.1105G>A
ENST00000371953.7:c.1105G>A

Uncertain Significance

• Met criteria codes: PM2 BS3_Supporting PP2

• Not Met criteria codes: BP5 BP7 BP4 BP2 PM6 PM5 PM1 PM4 PS1 PS3 PS4 PS2 BA1 PP3 PP1 PVS1 BS1 BS4 BS2

Expert Panel

PTEN VCEP

Criteria Specification Information

Evidence submitted by expert panel

PTEN VCEP

PTEN c.1105G>A (p.Val369Ile) 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 PP2: PTEN is defined by the PTEN Expert Panel as a gene that has a low rate of benign missense variation and where missense variants are a common mechanism of disease BS3_P: In vitro or in vivo functional study or studies showing no damaging effect on protein function but BS3 not met. (PMID 29706350)

Met criteria codes

• PM2: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• BS3_Supporting: Mighell et al., score is -0.386029809 (-1.11 and 0.89) = WT-like (BS3/BS3_supporting)
• PP2: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Not 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
• BP4: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• BP2: 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
• PM5: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PM1: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PM4: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PS1: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PS3: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PS4: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PS2: 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
• PP3: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PP1: 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
• BS1: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• BS4: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• BS2: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline