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NM_000548.5(TSC2):c.3814+1G>C AND Tuberous sclerosis syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000055237.2

Allele description [Variation Report for NM_000548.5(TSC2):c.3814+1G>C]

NM_000548.5(TSC2):c.3814+1G>C

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.3814+1G>C
HGVS:
  • NC_000016.10:g.2081799G>C
  • NG_005895.1:g.37494G>C
  • NM_000548.5:c.3814+1G>CMANE SELECT
  • NM_001077183.3:c.3682+1G>C
  • NM_001114382.3:c.3814+1G>C
  • NM_001318827.2:c.3574+1G>C
  • NM_001318829.2:c.3538+1G>C
  • NM_001318831.2:c.3082+1G>C
  • NM_001318832.2:c.3715+1G>C
  • NM_001363528.2:c.3685+1G>C
  • NM_001370404.1:c.3682+1G>C
  • NM_001370405.1:c.3685+1G>C
  • NM_001406663.1:c.3811+1G>C
  • NM_001406664.1:c.3811+1G>C
  • NM_001406665.1:c.3682+1G>C
  • NM_001406667.1:c.3775+1G>C
  • NM_001406668.1:c.3772+1G>C
  • NM_001406670.1:c.3703+1G>C
  • NM_001406671.1:c.3673+1G>C
  • NM_001406673.1:c.3670+1G>C
  • NM_001406675.1:c.3667+1G>C
  • NM_001406676.1:c.3664+1G>C
  • NM_001406677.1:c.3625+1G>C
  • NM_001406678.1:c.3571+1G>C
  • NM_001406679.1:c.3535+1G>C
  • NM_001406680.1:c.3214+1G>C
  • NM_001406681.1:c.3223+1G>C
  • NM_001406682.1:c.3214+1G>C
  • NM_001406683.1:c.3214+1G>C
  • NM_001406684.1:c.3211+1G>C
  • NM_001406685.1:c.3085+1G>C
  • NM_001406686.1:c.3085+1G>C
  • NM_001406687.1:c.3082+1G>C
  • NM_001406688.1:c.3082+1G>C
  • NM_001406689.1:c.2470+1G>C
  • NM_001406690.1:c.2341+1G>C
  • NM_001406691.1:c.2338+1G>C
  • NM_001406692.1:c.2341+1G>C
  • NM_001406693.1:c.2341+1G>C
  • NM_001406694.1:c.2341+1G>C
  • NM_001406695.1:c.2338+1G>C
  • NM_001406696.1:c.2338+1G>C
  • NM_001406697.1:c.2338+1G>C
  • NM_001406698.1:c.2080+1G>C
  • NM_021055.3:c.3685+1G>C
  • LRG_487t1:c.3814+1G>C
  • LRG_487:g.37494G>C
  • NC_000016.9:g.2131800G>C
  • NM_000548.3:c.3814+1G>C
  • p.?
Links:
Tuberous sclerosis database (TSC2): TSC2_02376; dbSNP: rs397514902
NCBI 1000 Genomes Browser:
rs397514902
Molecular consequence:
  • NM_000548.5:c.3814+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001077183.3:c.3682+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001114382.3:c.3814+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318827.2:c.3574+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318829.2:c.3538+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318831.2:c.3082+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001318832.2:c.3715+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001363528.2:c.3685+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370404.1:c.3682+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370405.1:c.3685+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406663.1:c.3811+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406664.1:c.3811+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406665.1:c.3682+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406667.1:c.3775+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406668.1:c.3772+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406670.1:c.3703+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406671.1:c.3673+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406673.1:c.3670+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406675.1:c.3667+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406676.1:c.3664+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406677.1:c.3625+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406678.1:c.3571+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406679.1:c.3535+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406680.1:c.3214+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406681.1:c.3223+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406682.1:c.3214+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406683.1:c.3214+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406684.1:c.3211+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406685.1:c.3085+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406686.1:c.3085+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406687.1:c.3082+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406688.1:c.3082+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406689.1:c.2470+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406690.1:c.2341+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406691.1:c.2338+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406692.1:c.2341+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406693.1:c.2341+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406694.1:c.2341+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406695.1:c.2338+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406696.1:c.2338+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406697.1:c.2338+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406698.1:c.2080+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_021055.3:c.3685+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Tuberous sclerosis syndrome (TSC)
Synonyms:
Tuberous sclerosis
Identifiers:
MONDO: MONDO:0001734; MedGen: C0041341; OMIM: PS191100

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000083456Tuberous sclerosis database (TSC2)
no classification provided

(Tuberous Sclerosis Database Assertion Criteria 2015)		not providedgermlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration

Details of each submission

From Tuberous sclerosis database (TSC2), SCV000083456.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024