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

  • 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
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
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Uncertain Significance

Met criteria codes 1
PM2

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.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).
Met criteria codes
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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