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]

Variant: NM_000314.7(PTEN):c.253+4G>A

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA16613005

404144 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 7576a73b-39d3-49d3-a33a-ce445e29268b

Approved on: 2020-10-20

Published on: 2022-09-30

HGVS expressions

NM_000314.7:c.253+4G>A

NM_000314.7(PTEN):c.253+4G>A

NC_000010.11:g.87931093G>A

CM000672.2:g.87931093G>A

NC_000010.10:g.89690850G>A

CM000672.1:g.89690850G>A

NC_000010.9:g.89680830G>A

NG_007466.2:g.72655G>A

ENST00000686459.1:c.253+4G>A

ENST00000688158.1:c.*364+4G>A

ENST00000688308.1:c.253+4G>A

ENST00000688922.1:n.174+4G>A

ENST00000693560.1:c.772+4G>A

ENST00000371953.8:c.253+4G>A

ENST00000371953.7:c.253+4G>A

ENST00000498703.1:n.79+4G>A

ENST00000610634.1:c.151+4G>A

NM_000314.5:c.253+4G>A

NM_000314.6:c.253+4G>A

NM_001304717.2:c.772+4G>A

NM_001304718.1:c.-498+4G>A

NM_001304717.5:c.772+4G>A

NM_001304718.2:c.-498+4G>A

NM_000314.8:c.253+4G>A

NM_000314.8(PTEN):c.253+4G>A

Uncertain Significance

BP4 PM2

BA1 BS1 BP1 PP2

Evidence Links 0

Expert Panel

PTEN VCEP

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.253+4G>A (IVS4+4G>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 BP4: Intronic variant where at least 2 out of 3 in silico models predict no splicing impact.

BP4

No splicing effect

PM2

Absent from gnomAD, ExAC, 1000 Genomes and ESP

BA1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BS1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BP1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

PP2

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Curation History

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