Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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  • See Evidence submitted by expert panel for details.

Variant: NM_000314.6(PTEN):c.209+4_209+7delAGTA

CA220637

92816 (ClinVar)

Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 9b41938e-76e1-469c-a782-0fabdaceb60c
Approved on: 2017-12-18
Published on: 2018-12-10

HGVS expressions

NM_000314.6:c.209+4_209+7delAGTA
NM_000314.6(PTEN):c.209+4_209+7delAGTA
NC_000010.11:g.87925561_87925564del
CM000672.2:g.87925561_87925564del
NC_000010.10:g.89685318_89685321del
CM000672.1:g.89685318_89685321del
NC_000010.9:g.89675298_89675301del
NG_007466.2:g.67123_67126del
NM_000314.5:c.209+4_209+7del
NM_000314.6:c.209+4_209+7del
NM_001304717.2:c.728+4_728+7del
NM_001304718.1:c.-541-5485_-541-5482del
NM_000314.7:c.209+4_209+7del
NM_001304717.5:c.728+4_728+7del
NM_001304718.2:c.-541-5485_-541-5482del
ENST00000371953.7:c.209+4_209+7del
ENST00000498703.1:n.35+4_35+7del
ENST00000610634.1:c.107+4_107+7del

Pathogenic

Met criteria codes 5
PS4_Supporting PM6_Strong PS3 PP1_Moderate PM2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
PTEN VCEP
PTEN c.209+4_209+7delAGTA (IVS3+4_IVS3+7delAGTA) meets criteria to be classified as pathogenic 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). PS3: RNA, mini-gene, or other assay shows impact on splicing. (PMID 28677221) PM6_S: Two probands with presumed de novo occurrence (maternity/paternity not confirmed) in a patient with the disease and no family history. (Internal laboratory contributor(s)) PM2: Absent in large sequenced populations (PMID 27535533). PP1_M: Co-segregation with disease in multiple affected family members, with 5 or 6 meioses observed. (Internal laboratory contributor(s)) PS4_P: Proband(s) with phenotype specificity score of 1-1.5. (PMID 28677221, internal laboratory contributor(s) SCV000273868.4)
Met criteria codes
PS4_Supporting
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6_Strong
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1_Moderate
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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