VCV003383331.1 - ClinVar

NM_000546.6(TP53):c.270del (p.Trp91fs)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Likely pathogenic

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000546.6(TP53):c.270del (p.Trp91fs)

Variation ID: 3383331 Accession: VCV003383331.1

Type and length

Deletion, 1 bp

Location

Cytogenetic: 17p13.1 17: 7676099 (GRCh38) [ NCBI UCSC ] 17: 7579417 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Dec 7, 2024	Dec 7, 2024	Oct 1, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_000546.6:c.270del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000537.3:p.Trp91fs	frameshift
NM_001126112.3:c.270del	NP_001119584.1:p.Trp91fs	frameshift
NM_001126113.3:c.270del	NP_001119585.1:p.Trp91fs	frameshift
NM_001126114.3:c.270del	NP_001119586.1:p.Trp91fs	frameshift
NM_001126118.2:c.153del	NP_001119590.1:p.Trp52fs	frameshift
NM_001276695.3:c.153del	NP_001263624.1:p.Trp52fs	frameshift
NM_001276696.3:c.153del	NP_001263625.1:p.Trp52fs	frameshift
NM_001276760.3:c.153del	NP_001263689.1:p.Trp52fs	frameshift
NM_001276761.3:c.153del	NP_001263690.1:p.Trp52fs	frameshift
NM_001407262.1:c.270del	NP_001394191.1:p.Trp91fs	frameshift
NM_001407263.1:c.153del	NP_001394192.1:p.Trp52fs	frameshift
NM_001407264.1:c.270del	NP_001394193.1:p.Trp91fs	frameshift
NM_001407265.1:c.153del	NP_001394194.1:p.Trp52fs	frameshift
NM_001407266.1:c.270del	NP_001394195.1:p.Trp91fs	frameshift
NM_001407267.1:c.153del	NP_001394196.1:p.Trp52fs	frameshift
NM_001407268.1:c.270del	NP_001394197.1:p.Trp91fs	frameshift
NM_001407269.1:c.153del	NP_001394198.1:p.Trp52fs	frameshift
NM_001407270.1:c.270del	NP_001394199.1:p.Trp91fs	frameshift
NM_001407271.1:c.153del	NP_001394200.1:p.Trp52fs	frameshift
NR_176326.1:n.412del		non-coding transcript variant
NC_000017.11:g.7676100del
NC_000017.10:g.7579418del
NG_017013.2:g.16452del
LRG_321:g.16452del
LRG_321t1:c.269del	LRG_321p1:p.Trp91Glyfs
LRG_321t2:c.269del	LRG_321:p.Trp91Glyfs
LRG_321t3:c.269del	LRG_321p3:p.Trp91Glyfs
LRG_321t4:c.269del	LRG_321p4:p.Trp91Glyfs
LRG_321t8:c.152del	LRG_321p8:p.Trp52Glyfs

... more HGVS ... less HGVS

Protein change

W52fs, W91fs

Other names

Canonical SPDI

NC_000017.11:7676098:GG:G

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
TP53		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	3373	3472

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
TP53-related disorder	Likely pathogenic (1)	no assertion criteria provided	Oct 1, 2024	RCV004797744.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Likely pathogenic (Oct 01, 2024)	no assertion criteria provided Method: clinical testing	TP53-related disorder Affected status: yes Allele origin: germline	Clinical Genetics and Genomics, Karolinska University Hospital Accession: SCV005419161.1 First in ClinVar: Dec 07, 2024 Last updated: Dec 07, 2024	Publications: PubMed (1) PubMed: 33300245

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.	Fortuno C	Human mutation	2021	PMID: 33300245

Text-mined citations for this variant ...

Record last updated Dec 07, 2024

ClinVar Genomic variation as it relates to human health

NM_000546.6(TP53):c.270del (p.Trp91fs)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...