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_000314.7(PTEN):c.802-51_802-14del

CA338721

220416 (ClinVar)

Gene: PTEN

Condition: PTEN hamartoma tumor syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 0ac92ea4-6700-459b-b067-82f87dddb118

HGVS expressions

NM_000314.7:c.802-51_802-14del

NM_000314.7(PTEN):c.802-51_802-14del

NC_000010.11:g.87960843_87960880del

CM000672.2:g.87960843_87960880del

NC_000010.10:g.89720600_89720637del

CM000672.1:g.89720600_89720637del

NC_000010.9:g.89710580_89710617del

NG_007466.2:g.102405_102442del

NM_000314.5:c.802-51_802-14del

NM_000314.6:c.802-51_802-14del

NM_001304717.2:c.1321-51_1321-14del

NM_001304718.1:c.211-51_211-14del

NM_001304717.5:c.1321-51_1321-14del

NM_001304718.2:c.211-51_211-14del

NM_000314.8:c.802-51_802-14del

ENST00000371953.7:c.802-51_802-14del

ENST00000472832.2:n.229-51_229-14del

Benign

BA1

PM2 BS1

Evidence Links 0

Expert Panel

PTEN VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

PTEN VCEP

PTEN c.802-51_802-14del (IVS7-51_IVS7-14del) meets criteria to be classified as benign 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). BA1: Allele frequency of 0.01931 (1.931%, 2747/142,290 alleles) in the global gnomAD cohort. (PMID 27535533)

BA1

1.931% global gnomAD (0.01931, 2747/142290 alleles)

PM2

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

Approved on: 2020-03-23

Published on: 2020-03-25

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