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NM_000548.5(TSC2):c.5242_5282del41 (p.Lys1748fs) AND Tuberous sclerosis 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 14, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003513468.2

Allele description [Variation Report for NM_000548.5(TSC2):c.5242_5282del41 (p.Lys1748fs)]

NM_000548.5(TSC2):c.5242_5282del41 (p.Lys1748fs)

Gene:
TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000548.5(TSC2):c.5242_5282del41 (p.Lys1748fs)
HGVS:
  • NC_000016.10:g.2088308_2088468del
  • NG_005895.1:g.44003_44163del
  • NG_008617.1:g.54755_54915del
  • NM_000548.5:c.5242_5282del41MANE SELECT
  • NM_001077183.3:c.5041_5081del41
  • NM_001114382.3:c.5173_5213del41
  • NM_001318827.2:c.4933_4973del41
  • NM_001318829.2:c.4897_4937del41
  • NM_001318831.2:c.4510_4550del41
  • NM_001318832.2:c.5074_5114del41
  • NM_001363528.2:c.5044_5084del41
  • NM_001370404.1:c.5110_5150del41
  • NM_001370405.1:c.5101_5141del41
  • NM_001406663.1:c.5239_5279del41
  • NM_001406664.1:c.5170_5210del41
  • NM_001406665.1:c.5164_5204del41
  • NM_001406667.1:c.5134_5174del41
  • NM_001406668.1:c.5131_5171del41
  • NM_001406670.1:c.5062_5102del41
  • NM_001406671.1:c.5032_5072del41
  • NM_001406673.1:c.5029_5069del41
  • NM_001406675.1:c.5026_5066del41
  • NM_001406676.1:c.5023_5063del41
  • NM_001406677.1:c.4984_5024del41
  • NM_001406678.1:c.4930_4970del41
  • NM_001406679.1:c.4894_4934del41
  • NM_001406680.1:c.4642_4682del41
  • NM_001406681.1:c.4582_4622del41
  • NM_001406682.1:c.4573_4613del41
  • NM_001406683.1:c.4573_4613del41
  • NM_001406684.1:c.4570_4610del41
  • NM_001406685.1:c.4444_4484del41
  • NM_001406686.1:c.4444_4484del41
  • NM_001406687.1:c.4441_4481del41
  • NM_001406688.1:c.4441_4481del41
  • NM_001406689.1:c.3829_3869del41
  • NM_001406690.1:c.3769_3809del41
  • NM_001406691.1:c.3766_3806del41
  • NM_001406692.1:c.3700_3740del41
  • NM_001406693.1:c.3700_3740del41
  • NM_001406694.1:c.3700_3740del41
  • NM_001406695.1:c.3697_3737del41
  • NM_001406696.1:c.3697_3737del41
  • NM_001406697.1:c.3697_3737del41
  • NM_001406698.1:c.3439_3479del41
  • NM_021055.3:c.5113_5153del41
  • NP_000539.2:p.Lys1748Glnfs
  • NP_000539.2:p.Lys1748fs
  • NP_001070651.1:p.Lys1681fs
  • NP_001107854.1:p.Lys1725fs
  • NP_001305756.1:p.Lys1645fs
  • NP_001305758.1:p.Lys1633fs
  • NP_001305760.1:p.Lys1504fs
  • NP_001305761.1:p.Lys1692fs
  • NP_001350457.1:p.Lys1682fs
  • NP_001357333.1:p.Lys1704fs
  • NP_001357334.1:p.Lys1701fs
  • NP_001393592.1:p.Lys1747fs
  • NP_001393593.1:p.Lys1724fs
  • NP_001393594.1:p.Lys1722fs
  • NP_001393596.1:p.Lys1712fs
  • NP_001393597.1:p.Lys1711fs
  • NP_001393599.1:p.Lys1688fs
  • NP_001393600.1:p.Lys1678fs
  • NP_001393602.1:p.Lys1677fs
  • NP_001393604.1:p.Lys1676fs
  • NP_001393605.1:p.Lys1675fs
  • NP_001393606.1:p.Lys1662fs
  • NP_001393607.1:p.Lys1644fs
  • NP_001393608.1:p.Lys1632fs
  • NP_001393609.1:p.Lys1548fs
  • NP_001393610.1:p.Lys1528fs
  • NP_001393611.1:p.Lys1525fs
  • NP_001393612.1:p.Lys1525fs
  • NP_001393613.1:p.Lys1524fs
  • NP_001393614.1:p.Lys1482fs
  • NP_001393615.1:p.Lys1482fs
  • NP_001393616.1:p.Lys1481fs
  • NP_001393617.1:p.Lys1481fs
  • NP_001393618.1:p.Lys1277fs
  • NP_001393619.1:p.Lys1257fs
  • NP_001393620.1:p.Lys1256fs
  • NP_001393621.1:p.Lys1234fs
  • NP_001393622.1:p.Lys1234fs
  • NP_001393623.1:p.Lys1234fs
  • NP_001393624.1:p.Lys1233fs
  • NP_001393625.1:p.Lys1233fs
  • NP_001393626.1:p.Lys1233fs
  • NP_001393627.1:p.Lys1147fs
  • NP_066399.2:p.Lys1705fs
  • LRG_487t1:c.5242_5282del41
  • LRG_487:g.44003_44163del
  • LRG_487p1:p.Lys1748Glnfs
  • NC_000016.9:g.2138307_2138467del
  • NC_000016.9:g.2138309_2138469del
  • NM_000548.3:c.5242_5282del41
  • NR_176225.1:n.5194_5234del41
  • NR_176226.1:n.5442_5482del41
  • NR_176227.1:n.5370_5410del41
  • NR_176228.1:n.5191_5231del41
  • NR_176229.1:n.5116_5156del41
Protein change:
K1147fs
Molecular consequence:
  • NM_000548.5:c.5242_5282del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001077183.3:c.5041_5081del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001114382.3:c.5173_5213del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318827.2:c.4933_4973del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318829.2:c.4897_4937del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318831.2:c.4510_4550del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318832.2:c.5074_5114del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363528.2:c.5044_5084del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370404.1:c.5110_5150del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370405.1:c.5101_5141del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406663.1:c.5239_5279del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406664.1:c.5170_5210del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406665.1:c.5164_5204del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406667.1:c.5134_5174del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406668.1:c.5131_5171del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406670.1:c.5062_5102del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406671.1:c.5032_5072del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406673.1:c.5029_5069del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406675.1:c.5026_5066del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406676.1:c.5023_5063del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406677.1:c.4984_5024del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406678.1:c.4930_4970del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406679.1:c.4894_4934del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406680.1:c.4642_4682del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406681.1:c.4582_4622del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406682.1:c.4573_4613del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406683.1:c.4573_4613del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406684.1:c.4570_4610del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406685.1:c.4444_4484del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406686.1:c.4444_4484del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406687.1:c.4441_4481del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406688.1:c.4441_4481del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406689.1:c.3829_3869del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406690.1:c.3769_3809del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406691.1:c.3766_3806del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406692.1:c.3700_3740del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406693.1:c.3700_3740del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406694.1:c.3700_3740del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406695.1:c.3697_3737del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406696.1:c.3697_3737del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406697.1:c.3697_3737del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406698.1:c.3439_3479del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_021055.3:c.5113_5153del41 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_176225.1:n.5194_5234del41 - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176226.1:n.5442_5482del41 - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176227.1:n.5370_5410del41 - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176228.1:n.5191_5231del41 - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176229.1:n.5116_5156del41 - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000548.5:c.5242_5282del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001077183.3:c.5041_5081del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001114382.3:c.5173_5213del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001318827.2:c.4933_4973del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001318829.2:c.4897_4937del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001318831.2:c.4510_4550del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001318832.2:c.5074_5114del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001363528.2:c.5044_5084del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001370404.1:c.5110_5150del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001370405.1:c.5101_5141del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406663.1:c.5239_5279del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406664.1:c.5170_5210del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406665.1:c.5164_5204del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406667.1:c.5134_5174del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406668.1:c.5131_5171del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406670.1:c.5062_5102del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406671.1:c.5032_5072del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406673.1:c.5029_5069del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406675.1:c.5026_5066del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406676.1:c.5023_5063del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406677.1:c.4984_5024del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406678.1:c.4930_4970del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406679.1:c.4894_4934del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406680.1:c.4642_4682del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406681.1:c.4582_4622del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406682.1:c.4573_4613del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406683.1:c.4573_4613del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406684.1:c.4570_4610del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406685.1:c.4444_4484del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406686.1:c.4444_4484del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406687.1:c.4441_4481del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406688.1:c.4441_4481del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406689.1:c.3829_3869del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406690.1:c.3769_3809del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406691.1:c.3766_3806del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406692.1:c.3700_3740del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406693.1:c.3700_3740del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406694.1:c.3700_3740del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406695.1:c.3697_3737del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406696.1:c.3697_3737del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406697.1:c.3697_3737del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406698.1:c.3439_3479del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_021055.3:c.5113_5153del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NR_176225.1:n.5194_5234del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NR_176226.1:n.5442_5482del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NR_176227.1:n.5370_5410del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NR_176228.1:n.5191_5231del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NR_176229.1:n.5116_5156del41 - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000548.5:c.5242_5282del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001077183.3:c.5041_5081del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001114382.3:c.5173_5213del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318827.2:c.4933_4973del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318829.2:c.4897_4937del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318831.2:c.4510_4550del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318832.2:c.5074_5114del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001363528.2:c.5044_5084del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370404.1:c.5110_5150del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370405.1:c.5101_5141del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406663.1:c.5239_5279del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406664.1:c.5170_5210del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406665.1:c.5164_5204del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406667.1:c.5134_5174del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406668.1:c.5131_5171del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406670.1:c.5062_5102del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406671.1:c.5032_5072del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406673.1:c.5029_5069del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406675.1:c.5026_5066del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406676.1:c.5023_5063del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406677.1:c.4984_5024del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406678.1:c.4930_4970del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406679.1:c.4894_4934del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406680.1:c.4642_4682del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406681.1:c.4582_4622del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406682.1:c.4573_4613del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406683.1:c.4573_4613del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406684.1:c.4570_4610del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406685.1:c.4444_4484del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406686.1:c.4444_4484del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406687.1:c.4441_4481del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406688.1:c.4441_4481del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406689.1:c.3829_3869del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406690.1:c.3769_3809del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406691.1:c.3766_3806del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406692.1:c.3700_3740del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406693.1:c.3700_3740del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406694.1:c.3700_3740del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406695.1:c.3697_3737del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406696.1:c.3697_3737del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406697.1:c.3697_3737del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406698.1:c.3439_3479del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_021055.3:c.5113_5153del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NR_176225.1:n.5194_5234del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NR_176226.1:n.5442_5482del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NR_176227.1:n.5370_5410del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NR_176228.1:n.5191_5231del41 - splice donor variant - [Sequence Ontology: SO:0001575]
  • NR_176229.1:n.5116_5156del41 - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Tuberous sclerosis 2 (TSC2)
Identifiers:
MONDO: MONDO:0013199; MedGen: C1860707; Orphanet: 805; OMIM: 613254

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004343573Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(Aug 14, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004343573.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change creates a premature translational stop signal (p.Lys1748Glnfs*13) in the TSC2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acid(s) of the TSC2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis (Invitae). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024