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.-1170C>T

CA151481

127662 (ClinVar)

Gene: KLLN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 8c50af60-fe53-4c9b-b60a-3735d21c8645

HGVS expressions

NM_000314.6:c.-1170C>T

NM_000314.6(PTEN):c.-1170C>T

NM_001126049.1:c.-812G>A

ENST00000371953.7:c.-1171C>T

ENST00000445946.3:c.-812G>A

NC_000010.11:g.87863299C>T

CM000672.2:g.87863299C>T

NC_000010.10:g.89623056C>T

CM000672.1:g.89623056C>T

NC_000010.9:g.89613036C>T

NG_007466.2:g.4862C>T

NG_033079.1:g.5139G>A

Uncertain Significance

BP5

Evidence Links 0

Expert Panel

PTEN VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

PTEN VCEP

PTEN c.-1170C>T (NC_000010.10: g.89623056C>T) 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). BP5: Variant found in multiple cases with alternate molecular basis for disease. (Internal laboratory contributor(s) SCV000149466.6, SCV000184146.1)

BP5

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

Approved on: 2017-11-08

Published on: 2018-12-10

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