chr17:7670678:A>G Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,573,996-7,573,996 View the variant detail on this assembly version.
hg38 chr17:7,670,678-7,670,678

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.1031T>C NP_000537.3:p.Leu344Pro
NM_001126112.2:c.1031T>C NP_001119584.1:p.Leu344Pro
NM_001276760.1:c.1031T>C NP_001263689.1:p.Leu344Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 COSM44070 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-02-21 criteria provided, single submitter Li-Fraumeni syndrome 1 germline unknown Detail
Likely pathogenic 2019-08-28 reviewed by expert panel Li-Fraumeni syndrome germline Detail
Pathogenic 2015-11-10 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2021-06-13 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
Likely pathogenic no assertion criteria provided Adrenal cortex carcinoma somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 Li-Fraumeni syndrome 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) AND Adrenocortical carcinoma, hereditary ClinVar Detail
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) AND Adrenal cortex carcinoma ClinVar 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
rs121912662 dbSNP
Genome
hg38
Position
chr17:7,670,678-7,670,678
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser