chr17:7578457:C>A Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,457-7,578,457
hg38 chr17:7,675,139-7,675,139 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126116.1:c.77G>T NP_001119588.1:p.Arg26Leu
NM_001276698.1:c.77G>T NP_001263627.1:p.Arg26Leu
NM_001126113.2:c.473G>T NP_001119585.1:p.Arg158Leu
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 62
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 191170 OMIM
HGNC 11998 HGNC
Ensembl ENSG00000141510 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM10714 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided middle third of oesophagus not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided Non-small cell lung cancer somatic MGS000026
(TMGS000046) 		Manabu Muto Kyoto University
Pathogenic Glioblastoma unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
not provided oesophagus, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided sigmoid colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided middle third of oesophagus not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-09-15 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Pathogenic 2021-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2024-02-14 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline unknown Detail
Pathogenic 2022-06-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer AMGMDS3 D Predictive Supports Resistance Somatic 4 25730903 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 1... CIViC Evidence Detail
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) AND not provided ClinVar Detail
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) AND Hereditary cancer-predisposing syndrome ClinVar 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
rs587782144 dbSNP
Genome
hg19
Position
chr17:7,578,457-7,578,457
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
R158L
Transcript 1 (CIViC Variant)
ENST00000269305.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1699
Genome browser