chr17:7576928:T>C Detail (hg19) (TP53)

Information

Genome

Assembly Position
hg19 chr17:7,576,928-7,576,928
hg38 chr17:7,673,610-7,673,610 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001126113.2:c.920-2A>G
NM_001276695.1:c.920-2A>G
NM_000546.5:c.920-2A>G
Summary

MGeND

Clinical significance not provided
Variant entry 14
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 COSM3388167 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006) 		Keizo Horibe National Hospital Organization Nagoya Medical Center
not provided Skin cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
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 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 lower third of oesophagus not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided body of stomach 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 sigmoid colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-11-15 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
Likely pathogenic 2022-06-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2019-08-07 criteria provided, multiple submitters, no conflicts not provided germline somatic Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Likely pathogenic 2020-03-24 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Likely pathogenic 2024-02-21 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 1 unknown germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 Li-Fraumeni syndrome 1 NA CLINVAR Detail
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000546.6(TP53):c.920-2A>G AND Li-Fraumeni syndrome ClinVar Detail
NM_000546.6(TP53):c.920-2A>G AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000546.6(TP53):c.920-2A>G AND not provided ClinVar Detail
NM_000546.6(TP53):c.920-2A>G AND Neoplasm of ovary ClinVar Detail
NM_000546.6(TP53):c.920-2A>G AND Breast and/or ovarian cancer ClinVar Detail
NM_000546.6(TP53):c.920-2A>G AND Li-Fraumeni syndrome 1 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs397516439 dbSNP
Genome
hg19
Position
chr17:7,576,928-7,576,928
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser