NM_000548.5(TSC2):c.5260-25C>G AND Tuberous sclerosis 2

Germline classification:: Benign (2 submissions)
Last evaluated:: Jul 7, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000576507.3

Allele description [Variation Report for NM_000548.5(TSC2):c.5260-25C>G]

NM_000548.5(TSC2):c.5260-25C>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000548.5(TSC2):c.5260-25C>G

HGVS:

NC_000016.10:g.2088421C>G
NG_005895.1:g.44116C>G
NG_008617.1:g.54800G>C
NM_000548.4:c.5260-25C>G
NM_000548.5:c.5260-25C>GMANE SELECT
NM_001077183.3:c.5059-25C>G
NM_001114382.3:c.5191-25C>G
NM_001318827.2:c.4951-25C>G
NM_001318829.2:c.4915-25C>G
NM_001318831.2:c.4528-25C>G
NM_001318832.2:c.5092-25C>G
NM_001363528.2:c.5062-25C>G
NM_001370404.1:c.5128-25C>G
NM_001370405.1:c.5119-25C>G
NM_021055.3:c.5131-25C>G
LRG_487t1:c.5260-25C>G
LRG_487:g.44116C>G
NC_000016.9:g.2138422C>G
NM_000548.3:c.5260-25C>G
p.(=)

Links:

Tuberous sclerosis database (TSC2): TSC2_00300; dbSNP: rs13332222

NCBI 1000 Genomes Browser:

rs13332222

Molecular consequence:

NM_000548.5:c.5260-25C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001077183.3:c.5059-25C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001114382.3:c.5191-25C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001318827.2:c.4951-25C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001318829.2:c.4915-25C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001318831.2:c.4528-25C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001318832.2:c.5092-25C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001363528.2:c.5062-25C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001370404.1:c.5128-25C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001370405.1:c.5119-25C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_021055.3:c.5131-25C>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000677556	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (May 8, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004016097	KCCC/NGS Laboratory, Kuwait Cancer Control Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jul 7, 2023)	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

SCV000677556

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(May 8, 2017)

germline

clinical testing

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

SCV004016097

KCCC/NGS Laboratory, Kuwait Cancer Control Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jul 7, 2023)

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

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 Athena Diagnostics, SCV000677556.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004016097.1

#	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 29, 2024

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