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.304_306dupAAA (p.Lys102_Pro103insLys)

CA169101

142681 (ClinVar)

Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 742e08c9-7bda-4006-95f1-22f34ec0d9e1
Approved on: 2020-03-23
Published on: 2020-03-26

HGVS expressions

NM_000314.6:c.304_306dupAAA
NM_000314.6(PTEN):c.304_306dupAAA (p.Lys102_Pro103insLys)
NC_000010.11:g.87933063_87933065dup
CM000672.2:g.87933063_87933065dup
NC_000010.10:g.89692820_89692822dup
CM000672.1:g.89692820_89692822dup
NC_000010.9:g.89682800_89682802dup
NG_007466.2:g.74625_74627dup
ENST00000686459.1:c.304_306dup
ENST00000688158.1:c.*415_*417dup
ENST00000688308.1:c.304_306dup
ENST00000688922.1:n.225_227dup
ENST00000693560.1:c.823_825dup
ENST00000371953.8:c.304_306dup
ENST00000371953.7:c.304_306dup
ENST00000498703.1:n.130_132dup
ENST00000610634.1:c.202_204dup
NM_000314.5:c.304_306dup
NM_000314.6:c.304_306dup
NM_001304717.2:c.823_825dup
NM_001304718.1:c.-447_-445dup
NM_000314.7:c.304_306dup
NM_001304717.5:c.823_825dup
NM_001304718.2:c.-447_-445dup
NM_000314.8:c.304_306dup
NM_000314.8(PTEN):c.304_306dup (p.Lys102dup)
More

Uncertain Significance

Met criteria codes 1
PM2
Not Met criteria codes 25
PS1 PS2 PS3 PS4 BA1 PP1 PP2 PP3 PP4 PM6 PM1 PM3 PM5 PM4 PVS1 BS1 BS4 BS3 BS2 BP5 BP7 BP4 BP3 BP1 BP2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
PTEN VCEP
PTEN c.304_306dupAAA (p.Lys102_Pro103insLys) 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
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Not Met criteria codes
PS1
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
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
BA1
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
PP2
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
PP4
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
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM3
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
PM4
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
BS3
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
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
BP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP1
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
Curation History
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