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.1026+1G>A

CA000103

183722 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 9a0535ed-2b90-4309-917f-cbcce2549f2a

Approved on: 2017-10-18

Published on: 2018-12-10

HGVS expressions

NM_000314.6:c.1026+1G>A

NM_000314.6(PTEN):c.1026+1G>A

NM_000314.5:c.1026+1G>A

NM_001304717.2:c.1545+1G>A

NM_001304718.1:c.435+1G>A

NM_000314.7:c.1026+1G>A

NM_001304717.5:c.1545+1G>A

NM_001304718.2:c.435+1G>A

ENST00000371953.7:c.1026+1G>A

ENST00000472832.2:n.454G>A

NC_000010.11:g.87961119G>A

CM000672.2:g.87961119G>A

NC_000010.10:g.89720876G>A

CM000672.1:g.89720876G>A

NC_000010.9:g.89710856G>A

NG_007466.2:g.102681G>A

Pathogenic

PVS1 PS4_Moderate 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.1026+1G>A (IVS8+1G>A) 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). PVS1: Null variant predicted to result in nonsense-mediated decay or causing truncation/frameshift at or 5’ to c.1121 (NM_000314.4) (PMID 28677221). PM2: Absent in large sequenced populations (PMID 27535533). PS4_M: Probands with phenotype specificity score of 2-3.5. (PMID 28677221, internal laboratory contributor(s) SCV000212764.4)

PVS1

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

PS4_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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