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NM_000548.5(TSC2):c.3284+1G>T AND Neuroblastoma

Germline classification:
other (1 submission)
Last evaluated:
May 1, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000505679.1

Allele description [Variation Report for NM_000548.5(TSC2):c.3284+1G>T]

NM_000548.5(TSC2):c.3284+1G>T

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.3284+1G>T
HGVS:
  • NC_000016.10:g.2079429G>T
  • NG_005895.1:g.35124G>T
  • NM_000548.5:c.3284+1G>TMANE SELECT
  • NM_001077183.3:c.3152+1G>T
  • NM_001114382.3:c.3284+1G>T
  • NM_001318827.2:c.3044+1G>T
  • NM_001318829.2:c.3008+1G>T
  • NM_001318831.2:c.2552+1G>T
  • NM_001318832.2:c.3185+1G>T
  • NM_001363528.2:c.3155+1G>T
  • NM_001370404.1:c.3152+1G>T
  • NM_001370405.1:c.3155+1G>T
  • NM_001406663.1:c.3281+1G>T
  • NM_001406664.1:c.3281+1G>T
  • NM_001406665.1:c.3152+1G>T
  • NM_001406667.1:c.3245+1G>T
  • NM_001406668.1:c.3242+1G>T
  • NM_001406670.1:c.3173+1G>T
  • NM_001406671.1:c.3143+1G>T
  • NM_001406673.1:c.3140+1G>T
  • NM_001406675.1:c.3137+1G>T
  • NM_001406676.1:c.3134+1G>T
  • NM_001406677.1:c.3095+1G>T
  • NM_001406678.1:c.3041+1G>T
  • NM_001406679.1:c.3005+1G>T
  • NM_001406680.1:c.2684+1G>T
  • NM_001406681.1:c.2693+1G>T
  • NM_001406682.1:c.2684+1G>T
  • NM_001406683.1:c.2684+1G>T
  • NM_001406684.1:c.2681+1G>T
  • NM_001406685.1:c.2555+1G>T
  • NM_001406686.1:c.2555+1G>T
  • NM_001406687.1:c.2552+1G>T
  • NM_001406688.1:c.2552+1G>T
  • NM_001406689.1:c.1940+1G>T
  • NM_001406690.1:c.1811+1G>T
  • NM_001406691.1:c.1808+1G>T
  • NM_001406692.1:c.1811+1G>T
  • NM_001406693.1:c.1811+1G>T
  • NM_001406694.1:c.1811+1G>T
  • NM_001406695.1:c.1808+1G>T
  • NM_001406696.1:c.1808+1G>T
  • NM_001406697.1:c.1808+1G>T
  • NM_001406698.1:c.1550+1G>T
  • NM_021055.3:c.3155+1G>T
  • LRG_487:g.35124G>T
  • NC_000016.9:g.2129430G>T
  • c.3284+1G>T
Links:
dbSNP: rs45517289
NCBI 1000 Genomes Browser:
rs45517289
Molecular consequence:
  • NM_000548.5:c.3284+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001077183.3:c.3152+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001114382.3:c.3284+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318827.2:c.3044+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318829.2:c.3008+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318831.2:c.2552+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318832.2:c.3185+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001363528.2:c.3155+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370404.1:c.3152+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370405.1:c.3155+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406663.1:c.3281+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406664.1:c.3281+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406665.1:c.3152+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406667.1:c.3245+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406668.1:c.3242+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406670.1:c.3173+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406671.1:c.3143+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406673.1:c.3140+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406675.1:c.3137+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406676.1:c.3134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406677.1:c.3095+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406678.1:c.3041+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406679.1:c.3005+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406680.1:c.2684+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406681.1:c.2693+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406682.1:c.2684+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406683.1:c.2684+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406684.1:c.2681+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406685.1:c.2555+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406686.1:c.2555+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406687.1:c.2552+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406688.1:c.2552+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406689.1:c.1940+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406690.1:c.1811+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406691.1:c.1808+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406692.1:c.1811+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406693.1:c.1811+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406694.1:c.1811+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406695.1:c.1808+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406696.1:c.1808+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406697.1:c.1808+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406698.1:c.1550+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_021055.3:c.3155+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Neuroblastoma (NB)
Identifiers:
MONDO: MONDO:0005072; MeSH: D009447; MedGen: C0027819; Orphanet: 635; Human Phenotype Ontology: HP:0003006

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000599960Donald Williams Parsons Laboratory, Baylor College of Medicine - CSER-BASIC3

See additional submitters

no assertion criteria provided
other
(May 1, 2016) 		somaticclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, et al.

JAMA Oncol. 2016 May 1;2(5):616-624. doi: 10.1001/jamaoncol.2015.5699.

PubMed [citation]
PMID:
26822237
PMCID:
PMC5471125

Details of each submission

From Donald Williams Parsons Laboratory, Baylor College of Medicine - CSER-BASIC3, SCV000599960.1

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

Last Updated: Jun 10, 2023