chr17:7578449:C>T Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,449-7,578,449
hg38 chr17:7,675,131-7,675,131 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.481G>A NP_000537.3:p.Ala161Thr
NM_001126112.2:c.481G>A NP_001119584.1:p.Ala161Thr
NM_001276760.1:c.481G>A NP_001263689.1:p.Ala161Thr
Summary

MGeND

Clinical significance not provided
Variant entry 31
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 COSM3378356 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided body of stomach not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided caecum not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided intrahepatic bile duct carcinoma not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided Endometrial cancer somatic MGS000018
(TMGS000110)
Hitoshi Nakagama National Cancer Center Japan 30742731
not provided middle third of oesophagus not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided stomach, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon 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 colon, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum 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 body of stomach not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance no assertion criteria provided Malignant tumor of prostate somatic Detail
Pathogenic 2021-02-26 criteria provided, single submitter not provided germline Detail
Pathogenic Likely pathogenic 2023-04-10 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-10-09 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Pathogenic Likely pathogenic 2024-02-14 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 germline unknown Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Likely pathogenic 2022-10-06 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.230 Malignant neoplasm of prostate NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) AND Malignant tumor of prostate ClinVar Detail
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) AND not provided ClinVar Detail
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) AND Adrenocortical carcinoma, hereditary 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
rs193920817 dbSNP
Genome
hg19
Position
chr17:7,578,449-7,578,449
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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