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.18A>G (p.Lys6=)

CA10578903

233415 (ClinVar)

Gene: PTEN (HGNC:5728)

Condition: PTEN hamartoma tumor syndrome (MONDO:0017623)

Inheritance Mode: Autosomal dominant inheritance

UUID: 747804f8-133a-4807-9f7e-4c8798e82ee5

Approved on: 2016-10-12

Published on: 2018-12-10

HGVS expressions

NM_000314.6:c.18A>G

NM_000314.6(PTEN):c.18A>G (p.Lys6=)

NM_000314.5:c.18A>G

NM_001304717.2:c.537A>G

NM_001304718.1:c.-688A>G

NM_000314.7:c.18A>G

NM_001304717.5:c.537A>G

NM_001304718.2:c.-688A>G

ENST00000371953.7:c.18A>G

ENST00000462694.1:n.20A>G

ENST00000487939.1:n.39A>G

ENST00000610634.1:c.-85A>G

NC_000010.11:g.87864487A>G

CM000672.2:g.87864487A>G

NC_000010.10:g.89624244A>G

CM000672.1:g.89624244A>G

NC_000010.9:g.89614224A>G

NG_007466.2:g.6049A>G

NG_033079.1:g.3951T>C

Likely Benign

BP7 BP4

Evidence Links 0

Expert Panel

PTEN VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

PTEN VCEP

PTEN c.18A>G (p.L6=) meets criteria to be classified as likely 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). BP4: Synonymous variant where at least 2 out of 3 in silico models predict no splicing impact. BP7: Variant is synonymous (silent), nucleotide is not conserved, and no splicing impact is predicted.

BP7

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

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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