Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000314.6(PTEN):c.304_306dupAAA (p.Lys102_Pro103insLys)

Curation History

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: 2017-11-08

Published on: 2018-12-10

HGVS expressions

NM_000314.6:c.304_306dupAAA

NM_000314.6(PTEN):c.304_306dupAAA (p.Lys102_Pro103insLys)

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

ENST00000371953.7:c.304_306dup

ENST00000498703.1:n.130_132dup

ENST00000610634.1:c.202_204dup

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

Uncertain Significance

PM2

Evidence Links 0

Expert Panel

PTEN VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

PTEN VCEP

PTEN c.304_306dupAAA (p.K102_P103insK) is currently classified as a variant of uncertain significance for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (Mester et al. 2018; manuscript in preparation). 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 (PMID 27535533).

PM2

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Curation History

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