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NM_000546.6(TP53):c.373_375+1delinsCCTT AND Neoplasm

Germline classification:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
Likely oncogenic (1 submission)
Last evaluated:
Jul 31, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Record status:
current
Accession:
RCV004674068.1

Alleles description [Variation Report for NM_000546.6(TP53):c.373_375+1delinsCCTT]

NM_000546.6(TP53):c.375G>T (p.Thr125=)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.375G>T (p.Thr125=)
HGVS:
  • NC_000017.11:g.7675994C>A
  • NG_017013.2:g.16557G>T
  • NM_000546.6:c.375G>TMANE SELECT
  • NM_001126112.3:c.375G>T
  • NM_001126113.3:c.375G>T
  • NM_001126114.3:c.375G>T
  • NM_001126118.2:c.258G>T
  • NM_001276695.3:c.258G>T
  • NM_001276696.3:c.258G>T
  • NM_001276760.3:c.258G>T
  • NM_001276761.3:c.258G>T
  • NP_000537.3:p.Thr125=
  • NP_000537.3:p.Thr125=
  • NP_001119584.1:p.Thr125=
  • NP_001119585.1:p.Thr125=
  • NP_001119586.1:p.Thr125=
  • NP_001119590.1:p.Thr86=
  • NP_001263624.1:p.Thr86=
  • NP_001263625.1:p.Thr86=
  • NP_001263689.1:p.Thr86=
  • NP_001263690.1:p.Thr86=
  • LRG_321t1:c.375G>T
  • LRG_321:g.16557G>T
  • LRG_321p1:p.Thr125=
  • NC_000017.10:g.7579312C>A
  • NM_000546.4:c.375G>T
  • NM_000546.5:c.375G>T
Links:
dbSNP: rs55863639
NCBI 1000 Genomes Browser:
rs55863639
Molecular consequence:
  • NM_000546.6:c.375G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126112.3:c.375G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126113.3:c.375G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126114.3:c.375G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126118.2:c.258G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276695.3:c.258G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276696.3:c.258G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276760.3:c.258G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276761.3:c.258G>T - synonymous variant - [Sequence Ontology: SO:0001819]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)

NM_000546.6(TP53):c.373A>C (p.Thr125Pro)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.373A>C (p.Thr125Pro)
HGVS:
  • NC_000017.11:g.7675996T>G
  • NG_017013.2:g.16555A>C
  • NM_000546.4:c.373A>C
  • NM_000546.6:c.373A>CMANE SELECT
  • NM_001126112.3:c.373A>C
  • NM_001126113.3:c.373A>C
  • NM_001126114.3:c.373A>C
  • NM_001126118.2:c.256A>C
  • NM_001276695.3:c.256A>C
  • NM_001276696.3:c.256A>C
  • NM_001276760.3:c.256A>C
  • NM_001276761.3:c.256A>C
  • NP_000537.3:p.Thr125Pro
  • NP_000537.3:p.Thr125Pro
  • NP_001119584.1:p.Thr125Pro
  • NP_001119585.1:p.Thr125Pro
  • NP_001119586.1:p.Thr125Pro
  • NP_001119590.1:p.Thr86Pro
  • NP_001263624.1:p.Thr86Pro
  • NP_001263625.1:p.Thr86Pro
  • NP_001263689.1:p.Thr86Pro
  • NP_001263690.1:p.Thr86Pro
  • LRG_321t1:c.373A>C
  • LRG_321:g.16555A>C
  • LRG_321p1:p.Thr125Pro
  • NC_000017.10:g.7579314T>G
  • NM_000546.5:c.373A>C
  • NM_000546.6:c.373A>C
Protein change:
T125P
Links:
dbSNP: rs1057520003
NCBI 1000 Genomes Browser:
rs1057520003
Molecular consequence:
  • NM_000546.6:c.373A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.373A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.373A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.373A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.256A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.256A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.256A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.256A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.256A>C - missense variant - [Sequence Ontology: SO:0001583]

NM_000546.6(TP53):c.375+1G>T

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.375+1G>T
HGVS:
  • NC_000017.11:g.7675993C>A
  • NG_017013.2:g.16558G>T
  • NM_000546.6:c.375+1G>TMANE SELECT
  • NM_001126112.3:c.375+1G>T
  • NM_001126113.3:c.375+1G>T
  • NM_001126114.3:c.375+1G>T
  • NM_001126118.2:c.258+1G>T
  • NM_001276695.3:c.258+1G>T
  • NM_001276696.3:c.258+1G>T
  • NM_001276760.3:c.258+1G>T
  • NM_001276761.3:c.258+1G>T
  • NM_001407262.1:c.375+1G>T
  • NM_001407263.1:c.258+1G>T
  • NM_001407264.1:c.375+1G>T
  • NM_001407265.1:c.258+1G>T
  • NM_001407266.1:c.375+1G>T
  • NM_001407267.1:c.258+1G>T
  • NM_001407268.1:c.375+1G>T
  • NM_001407269.1:c.258+1G>T
  • NM_001407270.1:c.375+1G>T
  • NM_001407271.1:c.258+1G>T
  • LRG_321t1:c.375+1G>T
  • LRG_321:g.16558G>T
  • NC_000017.10:g.7579311C>A
  • NM_000546.4:c.375+1G>T
  • NM_000546.5:c.375+1G>T
Links:
dbSNP: rs1567555445
NCBI 1000 Genomes Browser:
rs1567555445
Molecular consequence:
  • NM_000546.6:c.375+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126112.3:c.375+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126113.3:c.375+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126114.3:c.375+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001126118.2:c.258+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276695.3:c.258+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276696.3:c.258+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276760.3:c.258+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001276761.3:c.258+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407262.1:c.375+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407263.1:c.258+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407264.1:c.375+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407265.1:c.258+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407266.1:c.375+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407267.1:c.258+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407268.1:c.375+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407269.1:c.258+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407270.1:c.375+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407271.1:c.258+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)

Condition(s)

Name:
Neoplasm
Synonyms:
Neoplasms; Neoplasm (disease)
Identifiers:
MONDO: MONDO:0005070; MeSH: D009369; MedGen: C0027651; Human Phenotype Ontology: HP:0002664

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005093887Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
criteria provided, single submitter

(ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022)		Likely oncogenic
(Jul 31, 2024) 		somaticclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).

Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, Chow C, Williams H, Carmody L, Barrow-Laing L, Rieke D, Kreutzfeldt S, Stenzinger A, Tamborero D, Benary M, Rajagopal PS, Ida CM, Lesmana H, Satgunaseelan L, Merker JD, Tolstorukov MY, Campregher PV, et al.

Genet Med. 2022 May;24(5):986-998. doi: 10.1016/j.gim.2022.01.001. Epub 2022 Jan 29. Erratum in: Genet Med. 2022 Sep;24(9):1991. doi: 10.1016/j.gim.2022.07.001.

PubMed [citation]
PMID:
35101336
PMCID:
PMC9081216

Details of each submission

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV005093887.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024