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]
  • See Evidence submitted by expert panel for details.

Variant: NM_000314.6(PTEN):c.534_535delTAinsAT (p.Tyr178Ter)

CA000509

7824 (ClinVar)

Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: ebef4811-dc36-4625-bd07-ea516d1cad7e
Approved on: 2018-04-06
Published on: 2018-12-10

HGVS expressions

NM_000314.6:c.534_535delTAinsAT
NM_000314.6(PTEN):c.534_535delTAinsAT (p.Tyr178Ter)
NC_000010.11:g.87952159_87952160delinsAT
CM000672.2:g.87952159_87952160delinsAT
NC_000010.10:g.89711916_89711917delinsAT
CM000672.1:g.89711916_89711917delinsAT
NC_000010.9:g.89701896_89701897delinsAT
NG_007466.2:g.93721_93722delinsAT
NM_000314.5:c.534_535delinsAT
NM_000314.6:c.534_535delinsAT
NM_001304717.2:c.1053_1054delinsAT
NM_001304718.1:c.-58_-57delinsAT
NM_000314.7:c.534_535delinsAT
NM_001304717.5:c.1053_1054delinsAT
NM_001304718.2:c.-58_-57delinsAT
ENST00000371953.7:c.534_535delinsAT
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Pathogenic

Met criteria codes 3
PVS1 PM2 PS4_Supporting

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
PTEN VCEP
PTEN c.534_535delTAinsAT (p.Y178X) meets criteria to be classified as pathogenic for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). Please see a summary of the rules and criteria codes in the “PTEN ACMG Specifications Summary” document (assertion method column). PVS1: Null variant predicted to result in nonsense-mediated decay or causing truncation/frameshift at or 5’ to c.1121 (NM_000314.4). PM2: Absent in large sequenced populations (PMID 27535533). PS4_P: Proband(s) with phenotype specificity score of 1-1.5. (PMID 9832032, PMID 23335809)
Met criteria codes
PVS1
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
PS4_Supporting
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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