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_000314.8(PTEN):c.493-7C>T

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA658683577

492332 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 39e9785e-750d-45a3-bc47-032824683251

Approved on: 2021-06-04

Published on: 2022-09-30

HGVS expressions

NM_000314.8:c.493-7C>T

NM_000314.8(PTEN):c.493-7C>T

NC_000010.11:g.87952111C>T

CM000672.2:g.87952111C>T

NC_000010.10:g.89711868C>T

CM000672.1:g.89711868C>T

NC_000010.9:g.89701848C>T

NG_007466.2:g.93673C>T

ENST00000686459.1:c.*79-7C>T

ENST00000688158.1:c.*604-7C>T

ENST00000688308.1:c.493-7C>T

ENST00000688922.1:n.414-7C>T

ENST00000693560.1:c.1012-7C>T

ENST00000371953.8:c.493-7C>T

ENST00000371953.7:c.493-7C>T

NM_000314.5:c.493-7C>T

NM_000314.6:c.493-7C>T

NM_001304717.2:c.1012-7C>T

NM_001304718.1:c.-99-7C>T

NM_000314.7:c.493-7C>T

NM_001304717.5:c.1012-7C>T

NM_001304718.2:c.-99-7C>T

Uncertain Significance

PM2 BP4

Evidence Links 0

Expert Panel

PTEN VCEP

Criteria Specification Information

Criteria Specification: ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2

PDF

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

PTEN VCEP

PTEN c.493-7C>T (IVS5-7C>T) 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 (PMID 27535533). BP4: Intronic variant where at least 2 out of 3 in silico models predict no splicing impact.

PM2

absent

BP4

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

Curation History

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