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
  • See Evidence submitted by expert panel for details.

Variant: NM_000314.6(PTEN):c.1052_1054delTAG (p.Val351del)

CA000271

127687 (ClinVar)

Gene: PTEN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: ba4a2bab-161e-445b-a38c-7ef4639e08a9
Approved on: 2020-03-23
Published on: 2020-03-26

HGVS expressions

NM_000314.6:c.1052_1054delTAG
NM_000314.6(PTEN):c.1052_1054delTAG (p.Val351del)
NC_000010.11:g.87965312_87965314del
CM000672.2:g.87965312_87965314del
NC_000010.10:g.89725069_89725071del
CM000672.1:g.89725069_89725071del
NC_000010.9:g.89715049_89715051del
NG_007466.2:g.106874_106876del
NM_000314.5:c.1052_1054del
NM_000314.6:c.1052_1054del
NM_001304717.2:c.1571_1573del
NM_001304718.1:c.461_463del
NM_000314.7:c.1052_1054del
NM_001304717.5:c.1571_1573del
NM_001304718.2:c.461_463del
NM_000314.8:c.1052_1054del
ENST00000371953.7:c.1052_1054del

Uncertain Significance

Met criteria codes 2
BS3_Supporting PM2
Not Met criteria codes 20
BS2 BS1 BS4 BP4 BP2 BP5 BP7 PS3 PS1 PS2 PS4 BA1 PP1 PP2 PP3 PM4 PM1 PM5 PM6 PVS1

Evidence Links 1

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
PTEN VCEP
PTEN c.1052_1054delTAG (p.Val351del) 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 (PMID 27535533). BS3_P: In vitro or in vivo functional study or studies showing no damaging effect on protein function but BS3 not met. (PMID 29706350)
Met criteria codes
BS3_Supporting
Score -0.96 in WT range PubMed:29706350
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Not Met criteria codes
BS2
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
BS4
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
BP2
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
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
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
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
PP1
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
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM4
Residue not in catalytic motif
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
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