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.-1059C>G

CA300594

189520 (ClinVar)

Gene: KLLN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 271c91d3-d627-42bf-86bc-ba9a7f7f2189

HGVS expressions

NM_000314.6:c.-1059C>G

NM_000314.6(PTEN):c.-1059C>G

NC_000010.11:g.87863410C>G

CM000672.2:g.87863410C>G

NC_000010.10:g.89623167C>G

CM000672.1:g.89623167C>G

NC_000010.9:g.89613147C>G

NG_007466.2:g.4973C>G

NG_033079.1:g.5028G>C

NM_001126049.1:c.-923G>C

ENST00000371953.7:c.-1060C>G

ENST00000445946.3:c.-923G>C

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.-1059C>G (NC_000010.10:g.89623167C>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 0.0138 (1.38%, 120/8698 alleles) in the African subpopulation of the gnomAD cohort. (PMID 27535533)

BA1

BA1: Allele frequency of 0.0138 (1.38%, 120/8698 alleles) in the African subpopulation of the gnomAD cohort. (PMID 27535533)

Approved on: 2016-09-14

Published on: 2018-12-10

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