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.79+35C>T

CA000576

92827 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: e8d81f24-56b8-4bfb-82c1-e3c4bb305db9

Approved on: 2016-09-14

Published on: 2018-12-10

HGVS expressions

NM_000314.6:c.79+35C>T

NM_000314.6(PTEN):c.79+35C>T

NC_000010.11:g.87864583C>T

CM000672.2:g.87864583C>T

NC_000010.10:g.89624340C>T

CM000672.1:g.89624340C>T

NC_000010.9:g.89614320C>T

NG_007466.2:g.6145C>T

NG_033079.1:g.3855G>A

NM_000314.5:c.79+35C>T

NM_001304717.2:c.598+35C>T

NM_001304718.1:c.-627+35C>T

NM_000314.7:c.79+35C>T

NM_001304717.5:c.598+35C>T

NM_001304718.2:c.-627+35C>T

ENST00000371953.7:c.79+35C>T

ENST00000462694.1:n.81+35C>T

ENST00000487939.1:n.100+35C>T

ENST00000610634.1:c.-24+35C>T

ENST00000618586.1:n.83C>T

Benign

BS1 BS3

Evidence Links 0

Expert Panel

PTEN VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

PTEN VCEP

PTEN c.79+35C>T (IVS1+35C>T) meets criteria to be classified as benign 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). BS1: Allele frequency of 0.00178 (1.78%, 492/277,200 alleles) in the gnomAD cohort. (PMID 27535533) BS3: Intronic variant with RNA, mini-gene, or other splicing assay demonstrating no splicing impact. (PMID 17636424)

BS1

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

BS3

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

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