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]

Link to SEPIO compliant JSON-LD document

Variant: NM_000314.6(PTEN):c.*10delT

CA000290

189424 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: e5c0aa16-de66-441e-9ef7-cda008c2cef7

HGVS expressions

NM_000314.6:c.*10delT

NM_000314.6(PTEN):c.*10delT

NC_000010.11:g.87965482del

CM000672.2:g.87965482del

NC_000010.10:g.89725239del

CM000672.1:g.89725239del

NC_000010.9:g.89715219del

NG_007466.2:g.107044del

ENST00000371953.8:c.*10del

ENST00000371953.7:c.*10del

NM_000314.5:c.*10del

NM_000314.6:c.*10del

NM_001304717.2:c.*10del

NM_001304718.1:c.*10del

NM_000314.7:c.*10del

NM_001304717.5:c.*10del

NM_001304718.2:c.*10del

NM_000314.8:c.*10del

NM_000314.8(PTEN):c.*10del

Uncertain Significance

The Expert Panel has overridden the computationally generated classification - "[unknown]"

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.*10del (NC_000010.10:g.89725239delT) 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). No criteria currently apply to this variant.

PM2

4 alleles in gnomAD V3

Approved on: 2021-10-29

Published on: 2021-10-29

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