NM_000548.5(TSC2):c.3883+8C>G AND not provided

Germline classification:
Benign (3 submissions)
Last evaluated:
Aug 4, 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:
RCV000713930.19

Allele description [Variation Report for NM_000548.5(TSC2):c.3883+8C>G]

NM_000548.5(TSC2):c.3883+8C>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.3883+8C>G
HGVS:
  • NC_000016.10:g.2082512C>G
  • NG_005895.1:g.38207C>G
  • NM_000548.5:c.3883+8C>GMANE SELECT
  • NM_001077183.3:c.3682+714C>G
  • NM_001114382.3:c.3814+714C>G
  • NM_001318827.2:c.3574+714C>G
  • NM_001318829.2:c.3538+714C>G
  • NM_001318831.2:c.3151+8C>G
  • NM_001318832.2:c.3715+714C>G
  • NM_001363528.2:c.3685+714C>G
  • NM_001370404.1:c.3751+8C>G
  • NM_001370405.1:c.3754+8C>G
  • NM_021055.3:c.3754+8C>G
  • LRG_487t1:c.3883+8C>G
  • LRG_487:g.38207C>G
  • NC_000016.9:g.2132513C>G
  • NM_000548.3:c.3883+8C>G
  • NM_000548.4:c.3883+8C>G
  • p.(=)
Links:
Tuberous sclerosis database (TSC2): TSC2_00539; dbSNP: rs45517316
NCBI 1000 Genomes Browser:
rs45517316
Molecular consequence:
  • NM_000548.5:c.3883+8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001077183.3:c.3682+714C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001114382.3:c.3814+714C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318827.2:c.3574+714C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318829.2:c.3538+714C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318831.2:c.3151+8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318832.2:c.3715+714C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363528.2:c.3685+714C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370404.1:c.3751+8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370405.1:c.3754+8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021055.3:c.3754+8C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000844577Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(Jan 25, 2018) 		germlineclinical testing

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

SCV001471061ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Benign
(Oct 11, 2019) 		germlineclinical testing

Citation Link,

SCV004221448Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Benign
(Aug 4, 2023) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H.

Genet Med. 2007 Feb;9(2):88-100.

PubMed [citation]
PMID:
17304050

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

Details of each submission

From Athena Diagnostics, SCV000844577.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001471061.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004221448.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024