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.801+23G>A

CA000585

92829 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 742d7bc7-fc1a-47ac-b7fb-3be400cfe09f

HGVS expressions

NM_000314.6:c.801+23G>A

NM_000314.6(PTEN):c.801+23G>A

NM_000314.5:c.801+23G>A

NM_001304717.2:c.1320+23G>A

NM_001304718.1:c.210+23G>A

NM_000314.7:c.801+23G>A

NM_001304717.5:c.1320+23G>A

NM_001304718.2:c.210+23G>A

ENST00000371953.7:c.801+23G>A

ENST00000472832.2:n.228+23G>A

NC_000010.11:g.87958042G>A

CM000672.2:g.87958042G>A

NC_000010.10:g.89717799G>A

CM000672.1:g.89717799G>A

NC_000010.9:g.89707779G>A

NG_007466.2:g.99604G>A

Likely Benign

BS1 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.801+23G>A (IVS7+23G>A) 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). BS1: Allele frequency of 0.0024 (0.24%, 58/24,016 alleles) in the African subpopulation of the gnomAD cohort. (PMID 27535533) BP4: Intronic variant where at least 2 out of 3 in silico models predict no splicing impact.

BS1

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

Approved on: 2018-09-26

Published on: 2018-12-10

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.