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]
Link to SEPIO compliant JSON-LD document
  • There was no gene found in the curated document received from the VCI/VCEP
  • Gene listed was thus derived from ClinVar and/or CAR

Variant: NM_000314.6(PTEN):c.-930G>A

CA000640

141717 (ClinVar)

Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: f654e4d5-1648-4d21-bd61-8ba41ee7bb30

HGVS expressions

NM_000314.6(PTEN):c.-930G>A
NC_000010.11:g.87863539G>A
CM000672.2:g.87863539G>A
NC_000010.10:g.89623296G>A
CM000672.1:g.89623296G>A
NC_000010.9:g.89613276G>A
NG_007466.2:g.5102G>A
NG_033079.1:g.4899C>T
ENST00000688308.1:c.-17+426G>A
ENST00000693560.1:c.-411G>A
ENST00000371953.7:c.-931G>A
ENST00000610634.1:c.-1033G>A
NM_000314.5:c.-930G>A
NM_000314.6:c.-930G>A
NM_001304717.2:c.-411G>A
NM_001304718.1:c.-1635G>A

Uncertain Significance

Met criteria codes 1
PM2
Not Met criteria codes 4
BS1 PS1 BA1 PM5

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2

PDF
Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
PTEN VCEP
PTEN c.-930G>A (NC_000010.10:g.89623296G>A) is currently classified as a variant of uncertain significance 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). PM2: Absent in large sequenced populations
Met criteria codes
PM2
Absent from gnomAD, ExAC, 1000 Genomes and ESP
Not Met criteria codes
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Approved on: 2020-10-20
Published on: 2022-09-30
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.
¤ Powered by BCM's Genboree.