chr16:2137898:C>T Detail (hg19) (TSC2)

Information

Genome

Assembly Position
hg19 chr16:2,137,898-2,137,898
hg38 chr16:2,087,897-2,087,897 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001318827.1:c.4715C>T NP_001305756.1:p.Pro1572Leu
NM_001318831.1:c.4715C>T NP_001305760.1:p.Pro1572Leu
NM_001077183.2:c.4823C>T NP_001070651.1:p.Pro1608Leu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM1636649 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 ill-defined sites within the digestive system not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-04-04 criteria provided, conflicting interpretations tuberous sclerosis 2 germline Detail
not provided no assertion provided Tuberous sclerosis syndrome germline Detail
not provided no assertion provided Lymphangiomyomatosis germline Detail
Pathogenic 2023-12-01 criteria provided, multiple submitters, no conflicts not provided de novo germline unknown Detail
Pathogenic 2023-03-08 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2021-09-28 criteria provided, single submitter Lymphangiomyomatosis,tuberous sclerosis 2,Isolated focal cortical dysplasia type II unknown Detail
Pathogenic 2021-09-28 criteria provided, single submitter Lymphangiomyomatosis,tuberous sclerosis 2,Isolated focal cortical dysplasia type II unknown Detail
Pathogenic 2021-09-28 criteria provided, single submitter Lymphangiomyomatosis,tuberous sclerosis 2,Isolated focal cortical dysplasia type II unknown 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
0.577 lymphangioleiomyomatosis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) AND Tuberous sclerosis 2 ClinVar Detail
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) AND Tuberous sclerosis syndrome ClinVar Detail
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) AND Lymphangiomyomatosis ClinVar Detail
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) AND not provided ClinVar Detail
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) AND multiple conditions ClinVar Detail
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) AND multiple conditions ClinVar Detail
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) AND multiple conditions ClinVar Detail
NA DisGeNET 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
rs45483392 dbSNP
Genome
hg19
Position
chr16:2,137,898-2,137,898
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser