Evidence Repository
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.1133_1136del (p.Arg378fs)

CA16619071

421055 (ClinVar)

Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: fd86daf3-07ce-4482-918a-b7dd2d40fd3b

HGVS expressions

NM_000314.7:c.1133_1136del
NM_000314.7(PTEN):c.1133_1136del (p.Arg378fs)
NC_000010.11:g.87965393_87965396del
CM000672.2:g.87965393_87965396del
NC_000010.10:g.89725150_89725153del
CM000672.1:g.89725150_89725153del
NC_000010.9:g.89715130_89715133del
NG_007466.2:g.106955_106958del
ENST00000700029.2:c.1226_1229del
ENST00000710265.1:c.*162_*165del
ENST00000688158.2:n.1868_1871del
ENST00000688922.2:c.*963_*966del
ENST00000700021.1:c.1088_1091del
ENST00000700022.1:c.*472_*475del
ENST00000700023.1:n.2291_2294del
ENST00000700024.1:n.2525_2528del
ENST00000706954.1:c.1133_1136del
ENST00000706955.1:c.*1168_*1171del
ENST00000686459.1:c.*719_*722del
ENST00000688158.1:c.*1244_*1247del
ENST00000688308.1:c.1133_1136del
ENST00000688922.1:c.1054_1057del
ENST00000693560.1:c.1652_1655del
ENST00000371953.8:c.1133_1136del
ENST00000371953.7:c.1133_1136del
NM_000314.5:c.1133_1136del
NM_000314.6:c.1133_1136del
NM_001304717.2:c.1652_1655del
NM_001304718.1:c.542_545del
NM_001304717.5:c.1652_1655del
NM_001304718.2:c.542_545del
NM_000314.8:c.1133_1136del
NM_000314.8(PTEN):c.1133_1136del (p.Arg378fs)

Uncertain Significance

Met criteria codes 2
PM4 PM2_Supporting
Not Met criteria codes 23
PM3 PM1 PM5 PM6 PVS1 BS2 BS4 BS3 BS1 BP2 BP3 BP4 BP1 BP5 BP7 BA1 PS2 PS3 PS1 PP4 PP1 PP3 PP2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
PTEN VCEP
NM_000314.8(PTEN):c.1133_1136del (p.Arg378IlefsTer37) is currently classified as a variant of uncertain significance for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (ACMG Classification Rules Specified for PTEN Variant Curation version 3.0.0). Please see a summary of the rules and criteria codes in the “PTEN ACMG Specifications Summary” document (assertion method column). PM2_P: Absent in large sequenced populations (PMID 27535533). PM4: Variant causes protein extension (NM_000314.4)
Met criteria codes
PM4
Variant causes protein extension
PM2_Supporting
absent gnomAD
Not Met criteria codes
PM3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
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
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
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
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
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
Approved on: 2024-02-09
Published on: 2024-03-04
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