chr16:2138295:G>A Detail (hg19) (TSC2)

Information

Genome

Assembly Position
hg19 chr16:2,138,295-2,138,295
hg38 chr16:2,088,294-2,088,294 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001114382.2:c.5159G>A NP_001107854.1:p.Arg1720Gln
NM_000548.4:c.5228G>A NP_000539.2:p.Arg1743Gln
NM_001318829.1:c.4883G>A NP_001305758.1:p.Arg1628Gln
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 5
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 191092 OMIM
HGNC 12363 HGNC
Ensembl ENSG00000103197 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1577252 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic 2019/06/15 tuberous sclerosis syndrome germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Likely pathogenic 2019/06/15 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Likely pathogenic 2019/06/15 brain, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2018-05-04 criteria provided, single submitter Tuberous sclerosis syndrome germline Detail
Pathogenic 2022-12-08 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic Likely pathogenic 2024-01-20 criteria provided, multiple submitters, no conflicts tuberous sclerosis 2 germline Detail
Likely pathogenic 2018-06-22 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 TUBEROUS SCLEROSIS 2 (disorder) NA CLINVAR Detail
0.494 tuberous sclerosis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) AND Tuberous sclerosis syndrome ClinVar Detail
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) AND not provided ClinVar Detail
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) AND Tuberous sclerosis 2 ClinVar Detail
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs45507199 dbSNP
Genome
hg19
Position
chr16:2,138,295-2,138,295
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser