NM_000548.5(TSC2):c.1912_1920del (p.Val638_Phe640del) AND Tuberous sclerosis 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 6, 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:: RCV004586476.1

Allele description [Variation Report for NM_000548.5(TSC2):c.1912_1920del (p.Val638_Phe640del)]

NM_000548.5(TSC2):c.1912_1920del (p.Val638_Phe640del)

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.1912_1920del (p.Val638_Phe640del)

HGVS:

NC_000016.10:g.2071582_2071590del
NG_005895.1:g.27277_27285del
NM_000548.5:c.1912_1920delMANE SELECT
NM_001077183.3:c.1912_1920del
NM_001114382.3:c.1912_1920del
NM_001318827.2:c.1801_1809del
NM_001318829.2:c.1765_1773del
NM_001318831.2:c.1312_1320del
NM_001318832.2:c.1945_1953del
NM_001363528.2:c.1912_1920del
NM_001370404.1:c.1912_1920del
NM_001370405.1:c.1912_1920del
NM_001406663.1:c.1912_1920del
NM_001406664.1:c.1912_1920del
NM_001406665.1:c.1912_1920del
NM_001406667.1:c.2002_2010del
NM_001406668.1:c.2002_2010del
NM_001406670.1:c.1801_1809del
NM_001406671.1:c.1900_1908del
NM_001406673.1:c.1900_1908del
NM_001406675.1:c.1765_1773del
NM_001406676.1:c.1765_1773del
NM_001406677.1:c.1855_1863del
NM_001406678.1:c.1801_1809del
NM_001406679.1:c.1765_1773del
NM_001406680.1:c.1312_1320del
NM_001406681.1:c.1450_1458del
NM_001406682.1:c.1312_1320del
NM_001406683.1:c.1312_1320del
NM_001406684.1:c.1312_1320del
NM_001406685.1:c.1312_1320del
NM_001406686.1:c.1312_1320del
NM_001406687.1:c.1312_1320del
NM_001406688.1:c.1312_1320del
NM_001406689.1:c.568_576del
NM_001406690.1:c.568_576del
NM_001406691.1:c.568_576del
NM_001406692.1:c.568_576del
NM_001406693.1:c.568_576del
NM_001406694.1:c.568_576del
NM_001406695.1:c.568_576del
NM_001406696.1:c.568_576del
NM_001406697.1:c.568_576del
NM_001406698.1:c.310_318del
NM_021055.3:c.1912_1920del
NP_000539.2:p.Val638_Phe640del
NP_000539.2:p.Val638_Phe640del
NP_001070651.1:p.Val638_Phe640del
NP_001107854.1:p.Val638_Phe640del
NP_001305756.1:p.Val601_Phe603del
NP_001305758.1:p.Val589_Phe591del
NP_001305760.1:p.Val438_Phe440del
NP_001305761.1:p.Val649_Phe651del
NP_001350457.1:p.Val638_Phe640del
NP_001357333.1:p.Val638_Phe640del
NP_001357334.1:p.Val638_Phe640del
NP_001393592.1:p.Val638_Phe640del
NP_001393593.1:p.Val638_Phe640del
NP_001393594.1:p.Val638_Phe640del
NP_001393596.1:p.Val668_Phe670del
NP_001393597.1:p.Val668_Phe670del
NP_001393599.1:p.Val601_Phe603del
NP_001393600.1:p.Val634_Phe636del
NP_001393602.1:p.Val634_Phe636del
NP_001393604.1:p.Val589_Phe591del
NP_001393605.1:p.Val589_Phe591del
NP_001393606.1:p.Val619_Phe621del
NP_001393607.1:p.Val601_Phe603del
NP_001393608.1:p.Val589_Phe591del
NP_001393609.1:p.Val438_Phe440del
NP_001393610.1:p.Val484_Phe486del
NP_001393611.1:p.Val438_Phe440del
NP_001393612.1:p.Val438_Phe440del
NP_001393613.1:p.Val438_Phe440del
NP_001393614.1:p.Val438_Phe440del
NP_001393615.1:p.Val438_Phe440del
NP_001393616.1:p.Val438_Phe440del
NP_001393617.1:p.Val438_Phe440del
NP_001393618.1:p.Val190_Phe192del
NP_001393619.1:p.Val190_Phe192del
NP_001393620.1:p.Val190_Phe192del
NP_001393621.1:p.Val190_Phe192del
NP_001393622.1:p.Val190_Phe192del
NP_001393623.1:p.Val190_Phe192del
NP_001393624.1:p.Val190_Phe192del
NP_001393625.1:p.Val190_Phe192del
NP_001393626.1:p.Val190_Phe192del
NP_001393627.1:p.Val104_Phe106del
NP_066399.2:p.Val638_Phe640del
LRG_487t1:c.1912_1920del
LRG_487:g.27277_27285del
LRG_487p1:p.Val638_Phe640del
NC_000016.9:g.2121583_2121591del
NM_000548.3:c.1912_1920delGTGCGGTTC
NR_176225.1:n.2022_2030del
NR_176226.1:n.2241_2249del
NR_176227.1:n.2241_2249del
NR_176228.1:n.2022_2030del
NR_176229.1:n.2022_2030del

Molecular consequence:

NM_000548.5:c.1912_1920del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001077183.3:c.1912_1920del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001114382.3:c.1912_1920del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318827.2:c.1801_1809del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318829.2:c.1765_1773del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318831.2:c.1312_1320del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001318832.2:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001363528.2:c.1912_1920del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370404.1:c.1912_1920del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001370405.1:c.1912_1920del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406663.1:c.1912_1920del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406664.1:c.1912_1920del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406665.1:c.1912_1920del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406667.1:c.2002_2010del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406668.1:c.2002_2010del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406670.1:c.1801_1809del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406671.1:c.1900_1908del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406673.1:c.1900_1908del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406675.1:c.1765_1773del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406676.1:c.1765_1773del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406677.1:c.1855_1863del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406678.1:c.1801_1809del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406679.1:c.1765_1773del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406680.1:c.1312_1320del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406681.1:c.1450_1458del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406682.1:c.1312_1320del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406683.1:c.1312_1320del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406684.1:c.1312_1320del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406685.1:c.1312_1320del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406686.1:c.1312_1320del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406687.1:c.1312_1320del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406688.1:c.1312_1320del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406689.1:c.568_576del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406690.1:c.568_576del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406691.1:c.568_576del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406692.1:c.568_576del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406693.1:c.568_576del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406694.1:c.568_576del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406695.1:c.568_576del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406696.1:c.568_576del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406697.1:c.568_576del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406698.1:c.310_318del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_021055.3:c.1912_1920del - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_176225.1:n.2022_2030del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176226.1:n.2241_2249del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176227.1:n.2241_2249del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176228.1:n.2022_2030del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176229.1:n.2022_2030del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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RecName: Full=Large ribosomal subunit protein uL10; AltName: Full=50S ribosomal ...
RecName: Full=Large ribosomal subunit protein uL10; AltName: Full=50S ribosomal protein L10
gi|123179412|sp|Q1BDF3.1|RL10_MYCSS

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005077849	Institute of Human Genetics, Cologne University	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 6, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005077849

Institute of Human Genetics, Cologne University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 6, 2024)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Human Genetics, Cologne University, SCV005077849.1

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Jul 23, 2024

ClinVar

Relating variation to medicine