chr17:7675232:G>A Detail (hg38) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,578,550-7,578,550 View the variant detail on this assembly version.
hg38 chr17:7,675,232-7,675,232

HGVS

Type Transcript Protein
RefSeq NM_000546.5:c.380C>T NP_000537.3:p.Ser127Phe
NM_001126112.2:c.380C>T NP_001119584.1:p.Ser127Phe
NM_001276760.1:c.380C>T NP_001263689.1:p.Ser127Phe
Summary

MGeND

Clinical significance Likely pathogenic other
Variant entry 2
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 191170 OMIM
HGNC 11998 HGNC
Ensembl ENSG00000141510 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1637542 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
other 2016/12/26 carcinoma, non-small-cell lung somatic MGS000014
(TMGS000028) 		Kohei Miyazono Tokyo University
Likely pathogenic 2018/03/22 Intimal sarcoma somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-10-07 criteria provided, single submitter not provided germline Detail
Conflicting interpretations of pathogenicity 2023-05-19 criteria provided, conflicting interpretations not specified germline Detail
Pathogenic 2023-10-04 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Pathogenic Likely pathogenic 2021-03-19 no assertion criteria provided Neoplasm of ovary somatic Detail
Likely pathogenic 2023-03-09 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2022-09-21 criteria provided, single submitter Adrenocortical carcinoma, hereditary unknown Detail
Likely pathogenic 2024-02-13 criteria provided, single submitter Li-Fraumeni syndrome 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) AND not provided ClinVar Detail
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) AND not specified ClinVar Detail
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) AND Adrenocortical carcinoma, hereditary ClinVar Detail
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) AND Li-Fraumeni syndrome 1 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
rs730881999 dbSNP
Genome
hg38
Position
chr17:7,675,232-7,675,232
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser