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.-764G>A

CA000567

7844 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 1c091a56-7fdb-41a4-9573-e48254ef08b7

HGVS expressions

NM_000314.6:c.-764G>A

NM_000314.6(PTEN):c.-764G>A

NC_000010.11:g.87863705G>A

CM000672.2:g.87863705G>A

NC_000010.10:g.89623462G>A

CM000672.1:g.89623462G>A

NC_000010.9:g.89613442G>A

NG_007466.2:g.5268G>A

NG_033079.1:g.4733C>T

ENST00000371953.8:c.-765G>A

ENST00000371953.7:c.-765G>A

ENST00000610634.1:c.-867G>A

NM_000314.5:c.-764G>A

NM_001304717.2:c.-245G>A

NM_001304718.1:c.-1469G>A

NM_000314.7:c.-764G>A

NM_001304717.5:c.-245G>A

NM_001304718.2:c.-1469G>A

NM_000314.8:c.-765G>A

NM_000314.8(PTEN):c.-765G>A

Uncertain Significance

The Expert Panel has overridden the computationally generated classification - "[unknown]"

PM2

Evidence Links 0

Expert Panel

PTEN VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

PTEN VCEP

PTEN c.-765G>A (AKA c.-764G>A, NC_000010.10:g.89623462G>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). No criteria currently apply to this variant.

PM2

3/64514 European alleles gnomAD V3

Approved on: 2021-10-29

Published on: 2021-10-29

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