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.-9C>G

Curation History

CA000663

92808 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: d1c7275d-fc3f-4feb-b749-4a6562cbc2d9

Approved on: 2016-11-09

Published on: 2018-12-10

HGVS expressions

NM_000314.6:c.-9C>G

NM_000314.6(PTEN):c.-9C>G

NC_000010.11:g.87864461C>G

CM000672.2:g.87864461C>G

NC_000010.10:g.89624218C>G

CM000672.1:g.89624218C>G

NC_000010.9:g.89614198C>G

NG_007466.2:g.6023C>G

NG_033079.1:g.3977G>C

NM_000314.5:c.-9C>G

NM_001304717.2:c.511C>G

NM_001304718.1:c.-714C>G

NM_000314.7:c.-9C>G

NM_001304717.5:c.511C>G

NM_001304718.2:c.-714C>G

ENST00000371953.7:c.-9C>G

ENST00000487939.1:n.13C>G

ENST00000610634.1:c.-111C>G

Benign

BA1

Evidence Links 0

Expert Panel

PTEN VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

PTEN VCEP

PTEN c.-9C>G (NC_000010.10:g.89624218C>G) meets criteria to be classified as benign 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). BA1: Allele frequency of 0.048 (4.8%, 903/18,870 alleles) in the East Asian subpopulation of the gnomAD cohort. (PMID 27535533)

BA1

BA1: Allele frequency of 0.048 (4.8%, 903/18,870 alleles) in the East Asian subpopulation of the gnomAD cohort. (PMID 27535533)

Curation History

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