NM_000548.5(TSC2):c.1807_1808del (p.Thr603fs) AND Tuberous sclerosis 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 7, 2024
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:: RCV004776345.1

Allele description [Variation Report for NM_000548.5(TSC2):c.1807_1808del (p.Thr603fs)]

NM_000548.5(TSC2):c.1807_1808del (p.Thr603fs)

Gene:

TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000548.5(TSC2):c.1807_1808del (p.Thr603fs)

HGVS:

NC_000016.10:g.2070544AC[1]
NG_005895.1:g.26239AC[1]
NM_000548.5:c.1807_1808delMANE SELECT
NM_001077183.3:c.1807_1808del
NM_001114382.3:c.1807_1808del
NM_001318827.2:c.1696_1697del
NM_001318829.2:c.1660_1661del
NM_001318831.2:c.1207_1208del
NM_001318832.2:c.1840_1841del
NM_001363528.2:c.1807_1808del
NM_001370404.1:c.1807_1808del
NM_001370405.1:c.1807_1808del
NM_001406663.1:c.1807_1808del
NM_001406664.1:c.1807_1808del
NM_001406665.1:c.1807_1808del
NM_001406667.1:c.1897_1898del
NM_001406668.1:c.1897_1898del
NM_001406670.1:c.1696_1697del
NM_001406671.1:c.1795_1796del
NM_001406673.1:c.1795_1796del
NM_001406675.1:c.1660_1661del
NM_001406676.1:c.1660_1661del
NM_001406677.1:c.1750_1751del
NM_001406678.1:c.1696_1697del
NM_001406679.1:c.1660_1661del
NM_001406680.1:c.1207_1208del
NM_001406681.1:c.1345_1346del
NM_001406682.1:c.1207_1208del
NM_001406683.1:c.1207_1208del
NM_001406684.1:c.1207_1208del
NM_001406685.1:c.1207_1208del
NM_001406686.1:c.1207_1208del
NM_001406687.1:c.1207_1208del
NM_001406688.1:c.1207_1208del
NM_001406689.1:c.463_464del
NM_001406690.1:c.463_464del
NM_001406691.1:c.463_464del
NM_001406692.1:c.463_464del
NM_001406693.1:c.463_464del
NM_001406694.1:c.463_464del
NM_001406695.1:c.463_464del
NM_001406696.1:c.463_464del
NM_001406697.1:c.463_464del
NM_001406698.1:c.205_206del
NM_021055.3:c.1807_1808del
NP_000539.2:p.Thr603Profs
NP_000539.2:p.Thr603fs
NP_001070651.1:p.Thr603fs
NP_001107854.1:p.Thr603fs
NP_001305756.1:p.Thr566fs
NP_001305758.1:p.Thr554fs
NP_001305760.1:p.Thr403fs
NP_001305761.1:p.Thr614fs
NP_001350457.1:p.Thr603fs
NP_001357333.1:p.Thr603fs
NP_001357334.1:p.Thr603fs
NP_001393592.1:p.Thr603fs
NP_001393593.1:p.Thr603fs
NP_001393594.1:p.Thr603fs
NP_001393596.1:p.Thr633fs
NP_001393597.1:p.Thr633fs
NP_001393599.1:p.Thr566fs
NP_001393600.1:p.Thr599fs
NP_001393602.1:p.Thr599fs
NP_001393604.1:p.Thr554fs
NP_001393605.1:p.Thr554fs
NP_001393606.1:p.Thr584fs
NP_001393607.1:p.Thr566fs
NP_001393608.1:p.Thr554fs
NP_001393609.1:p.Thr403fs
NP_001393610.1:p.Thr449fs
NP_001393611.1:p.Thr403fs
NP_001393612.1:p.Thr403fs
NP_001393613.1:p.Thr403fs
NP_001393614.1:p.Thr403fs
NP_001393615.1:p.Thr403fs
NP_001393616.1:p.Thr403fs
NP_001393617.1:p.Thr403fs
NP_001393618.1:p.Thr155fs
NP_001393619.1:p.Thr155fs
NP_001393620.1:p.Thr155fs
NP_001393621.1:p.Thr155fs
NP_001393622.1:p.Thr155fs
NP_001393623.1:p.Thr155fs
NP_001393624.1:p.Thr155fs
NP_001393625.1:p.Thr155fs
NP_001393626.1:p.Thr155fs
NP_001393627.1:p.Thr69fs
NP_066399.2:p.Thr603fs
LRG_487t1:c.1805_1806AC[1]
LRG_487:g.26239AC[1]
LRG_487p1:p.Thr603Profs
NC_000016.9:g.2120545AC[1]
NM_000548.3:c.1805_1806AC[1]
NR_176225.1:n.1915AC[1]
NR_176226.1:n.2134AC[1]
NR_176227.1:n.2134AC[1]
NR_176228.1:n.1915AC[1]
NR_176229.1:n.1915AC[1]

Protein change:

T155fs

Molecular consequence:

NM_000548.5:c.1807_1808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001077183.3:c.1807_1808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001114382.3:c.1807_1808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318827.2:c.1696_1697del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318829.2:c.1660_1661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318831.2:c.1207_1208del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001318832.2:c.1840_1841del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363528.2:c.1807_1808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370404.1:c.1807_1808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001370405.1:c.1807_1808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406663.1:c.1807_1808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406664.1:c.1807_1808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406665.1:c.1807_1808del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406667.1:c.1897_1898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406668.1:c.1897_1898del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406670.1:c.1696_1697del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406671.1:c.1795_1796del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406673.1:c.1795_1796del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406675.1:c.1660_1661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406676.1:c.1660_1661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406677.1:c.1750_1751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406678.1:c.1696_1697del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406679.1:c.1660_1661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406680.1:c.1207_1208del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406681.1:c.1345_1346del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406682.1:c.1207_1208del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406683.1:c.1207_1208del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406684.1:c.1207_1208del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406685.1:c.1207_1208del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406686.1:c.1207_1208del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406687.1:c.1207_1208del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406688.1:c.1207_1208del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406689.1:c.463_464del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406690.1:c.463_464del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406691.1:c.463_464del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406692.1:c.463_464del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406693.1:c.463_464del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406694.1:c.463_464del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406695.1:c.463_464del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406696.1:c.463_464del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406697.1:c.463_464del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406698.1:c.205_206del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_021055.3:c.1807_1808del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_176225.1:n.1915AC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176226.1:n.2134AC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176227.1:n.2134AC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176228.1:n.1915AC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176229.1:n.1915AC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005387664	MVZ Medizinische Genetik Mainz	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020)	Pathogenic (Oct 7, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005387664

MVZ Medizinische Genetik Mainz

criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)

Pathogenic
(Oct 7, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV005387664.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

ACMG Criteria: PVS1,PM2_SUP,PP4

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine