chr17:7674250:C>T Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,577,568-7,577,568 View the variant detail on this assembly version.
hg38 chr17:7,674,250-7,674,250

HGVS

Type Transcript Protein
RefSeq NM_001126113.2:c.713G>A NP_001119585.1:p.Cys238Tyr
NM_001276695.1:c.713G>A NP_001263624.1:p.Cys238Tyr
NM_000546.5:c.713G>A NP_000537.3:p.Cys238Tyr
Summary

MGeND

Clinical significance not provided
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 COSM3388191 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided 2017/07/27 Mixed adenoneuroendocrine carcinoma somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-06-08 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-12-12 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Likely pathogenic 2021-11-24 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Carcinoma of esophagus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of brain somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided B-cell chronic lymphocytic leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided pancreatic adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided ovarian serous cystadenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of uterine cervix somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell carcinoma of the head and neck somatic Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2020-10-30 no assertion criteria provided gallbladder cancer somatic Detail
Pathogenic Likely pathogenic 2024-02-16 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 unknown germline Detail
Pathogenic 2023-08-08 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
breast cancer E Prognostic Supports Poor Outcome Somatic 3 11051239 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.369 Li-Fraumeni syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
Cys-238 was directly bound to zinc molecule. Patients with missense mutations affecting amino acids ... CIViC Evidence Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND not provided ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Carcinoma of esophagus ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Hepatocellular carcinoma ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Lung adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Breast neoplasm ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Neoplasm of brain ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Gastric adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Glioblastoma ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Uterine carcinosarcoma ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Neoplasm of the large intestine ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Pancreatic adenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Multiple myeloma ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Neoplasm of uterine cervix ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Gallbladder cancer ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) 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
rs730882005 dbSNP
Genome
hg38
Position
chr17:7,674,250-7,674,250
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs730882005
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121356
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6480437720425855E-5
Variant (CIViC) (CIViC Variant)
C238Y
Transcript 1 (CIViC Variant)
ENST00000269305.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2648
Genome browser